ClinVar Miner

Variants from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Location: Australia  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
1798 589 2011 153 8 4558

Gene and significance breakdown #

Total genes and gene combinations: 1611
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD1 69 10 55 5 0 139
PKHD1 27 10 17 0 0 54
FLNC 3 1 31 0 0 35
KCNH2 12 4 15 0 0 31
KMT2D 13 2 9 4 0 28
ANKRD11 8 1 15 3 0 27
ABCA4 12 5 7 1 0 25
FBN1 13 6 5 1 0 25
COL4A5 13 10 0 0 0 23
PTPN11 18 2 3 0 0 23
RYR2 9 5 7 1 0 22
USH2A 16 0 5 0 0 21
COL2A1 16 2 2 0 0 20
MED13L 10 0 6 4 0 20
NF1 17 1 2 0 0 20
SLC26A4 17 1 1 0 0 19
ALPK3 3 1 14 0 0 18
CACNA1C 2 0 15 1 0 18
TNNT2 4 3 10 1 0 18
CHD7 7 2 8 0 0 17
KMT2A 6 1 10 0 0 17
PTEN 14 0 3 0 0 17
ARID1B 11 2 3 0 0 16
COL4A1 2 5 9 0 0 16
KCNQ2 12 1 3 0 0 16
CACNA1A 5 1 9 0 0 15
COL1A1 12 0 2 1 0 15
FBN2 0 2 12 1 0 15
NIPBL 7 2 5 1 0 15
PKD2 11 0 4 0 0 15
SPAST 11 1 3 0 0 15
DMD 6 0 8 0 0 14
HUWE1 1 2 11 0 0 14
ASH1L 0 1 11 1 0 13
ASPM 4 0 9 0 0 13
FOXP1 8 0 4 1 0 13
MYO15A 3 10 0 0 0 13
NSD1 9 2 2 0 0 13
PKP2 6 2 4 1 0 13
CHD4 2 3 7 0 0 12
COL4A4 7 2 3 0 0 12
HNF1B 8 2 2 0 0 12
KMT2C 2 0 10 0 0 12
NPC1 4 1 7 0 0 12
SLC12A3 12 0 0 0 0 12
SPG11 2 2 8 0 0 12
GJB2 9 1 1 0 0 11
NOTCH3 3 2 6 0 0 11
SCN2A 5 3 3 0 0 11
TMEM43 0 0 11 0 0 11
TRIO 1 1 8 1 0 11
TRRAP 0 1 10 0 0 11
ATP7B 5 2 3 0 0 10
ECHS1 2 6 2 0 0 10
KAT6A 9 0 0 1 0 10
LOC102724058, SCN1A 6 2 2 0 0 10
OCA2 4 4 2 0 0 10
PAH 10 0 0 0 0 10
STXBP1 9 0 0 1 0 10
TSC2 6 0 3 1 0 10
ADNP 5 1 3 0 0 9
BRPF1 2 0 7 0 0 9
CC2D2A 7 1 1 0 0 9
CHD3 2 2 5 0 0 9
CHD8 4 1 4 0 0 9
CIC 1 1 4 3 0 9
CLCN5 5 0 4 0 0 9
CREBBP 3 0 4 2 0 9
FHOD3 0 0 9 0 0 9
GFAP 5 0 3 1 0 9
HECW2 0 1 7 1 0 9
IQSEC2 3 0 5 1 0 9
LZTR1 1 4 4 0 0 9
MTOR 1 0 6 2 0 9
MYH6 0 0 8 1 0 9
MYH9 4 1 4 0 0 9
PDHA1 3 3 3 0 0 9
SMARCA2 4 2 3 0 0 9
SON 4 1 3 1 0 9
TGFBR1 2 3 4 0 0 9
ACVRL1 7 1 0 0 0 8
AR 5 3 0 0 0 8
ATP7A 2 1 4 1 0 8
BRAT1 1 2 5 0 0 8
COL4A3, MFF-DT 3 2 3 0 0 8
DPYD 5 0 3 0 0 8
ENG 6 1 1 0 0 8
F8 3 0 5 0 0 8
G6PD 8 0 0 0 0 8
GLB1 5 1 2 0 0 8
KDM6A 3 0 5 0 0 8
NPHS1 4 1 3 0 0 8
PIGG 3 1 4 0 0 8
PMM2 6 2 0 0 0 8
PUF60 5 2 1 0 0 8
RAF1 2 0 4 2 0 8
RBM20 1 0 6 1 0 8
SETD2 1 1 5 1 0 8
SETD5 5 1 2 0 0 8
SYNGAP1 3 3 2 0 0 8
TBCD 0 0 8 0 0 8
TPM1 3 1 4 0 0 8
ZFYVE26 2 0 6 0 0 8
ZNF292 3 0 4 1 0 8
ALMS1 2 0 5 0 0 7
CDH23 4 2 1 0 0 7
COL5A1 0 1 6 0 0 7
CUBN 2 1 4 0 0 7
DEPDC5 3 0 4 0 0 7
DYNC2H1 1 4 2 0 0 7
EHMT1 1 1 5 0 0 7
EPHB4 4 0 3 0 0 7
HEXA 6 1 0 0 0 7
MYT1L 2 0 4 1 0 7
NBEA 1 0 6 0 0 7
NOTCH2 2 0 5 0 0 7
OTOF 1 0 6 0 0 7
PCDH19 3 1 3 0 0 7
PURA 7 0 0 0 0 7
RERE 1 0 5 1 0 7
SCN8A 0 2 5 0 0 7
SETD1B 0 0 6 1 0 7
SOS1 3 0 2 2 0 7
TCF4 1 2 3 1 0 7
UMOD 1 3 3 0 0 7
VPS13B 4 0 3 0 0 7
ACTB 3 3 0 0 0 6
ARSA 4 0 1 1 0 6
BAG3 1 2 2 1 0 6
CHD2 1 2 3 0 0 6
CPLANE1 5 0 1 0 0 6
DHCR7 5 0 1 0 0 6
DNAH11 2 1 3 0 0 6
DYNC1H1 1 0 4 1 0 6
ENG, LOC102723566 5 0 1 0 0 6
EP300 1 1 4 0 0 6
GAA 4 1 1 0 0 6
GATA3 6 0 0 0 0 6
GATA4 0 0 4 2 0 6
GBA1, LOC106627981 6 0 0 0 0 6
GLA, RPL36A-HNRNPH2 3 0 2 1 0 6
INTS1 1 0 5 0 0 6
IRF2BPL 1 0 5 0 0 6
JAG1 3 1 1 1 0 6
KAT6B 5 0 1 0 0 6
KDM1A 0 0 6 0 0 6
KDM5C 1 1 4 0 0 6
LAMA2 2 2 2 0 0 6
MTHFR 5 0 1 0 0 6
MVP-DT, PRRT2 2 2 2 0 0 6
NEB, RIF1 2 2 2 0 0 6
NFIA 1 0 4 1 0 6
NR2F1 3 1 2 0 0 6
OTOG 2 1 3 0 0 6
RTTN 0 0 6 0 0 6
SATB2 5 0 1 0 0 6
SCN1A 3 0 3 0 0 6
SETBP1 4 0 1 1 0 6
SMAD3 1 3 2 0 0 6
SPTAN1 2 0 3 1 0 6
TUBA1A 3 2 1 0 0 6
TUBGCP6 1 0 5 0 0 6
TYR 6 0 0 0 0 6
UNC80 2 1 2 1 0 6
VCL 0 0 4 2 0 6
WDR62 3 0 3 0 0 6
ZFHX3 0 4 2 0 0 6
ABCC6 2 1 1 1 0 5
ACAD9 3 2 0 0 0 5
ACADVL 3 1 1 0 0 5
ACTN2 0 0 5 0 0 5
ASXL1 1 0 4 0 0 5
ATM 3 0 2 0 0 5
ATM, C11orf65 5 0 0 0 0 5
AUTS2 1 0 4 0 0 5
BCORL1 0 0 5 0 0 5
BLTP1 0 0 4 1 0 5
BPTF 0 0 4 1 0 5
CACNA1E 0 0 5 0 0 5
CCNH, RASA1 4 1 0 0 0 5
CDKL5 3 1 0 1 0 5
CEP290 4 0 1 0 0 5
CHM 4 0 1 0 0 5
COL7A1 4 1 0 0 0 5
CPS1 1 0 4 0 0 5
CTCF 3 0 2 0 0 5
CTNNB1 2 1 2 0 0 5
DNAH5 4 0 1 0 0 5
DNMT3A 3 0 2 0 0 5
DYRK1A 2 0 3 0 0 5
EFTUD2 1 2 2 0 0 5
FKRP 2 1 2 0 0 5
GALC 3 0 2 0 0 5
GLI3 2 1 2 0 0 5
INF2 1 0 2 2 0 5
KCNB1 3 0 2 0 0 5
KCNJ1 1 2 2 0 0 5
KCNT1 4 0 1 0 0 5
KRIT1 4 0 1 0 0 5
LAMA1 1 0 4 0 0 5
LDLR 4 0 0 1 0 5
LOXHD1 1 2 2 0 0 5
MBD5 0 0 5 0 0 5
MEIS2 0 1 4 0 0 5
NBAS 3 1 1 0 0 5
NEB 1 0 4 0 0 5
NFIB 1 1 3 0 0 5
PDZD7 1 0 4 0 0 5
PIK3CA 3 0 2 0 0 5
PNPT1 3 2 0 0 0 5
PPA2 2 1 2 0 0 5
PTCH1 1 1 3 0 0 5
RARS2 1 1 3 0 0 5
RET 2 2 1 0 0 5
RIT1 5 0 0 0 0 5
SAMD9 0 0 4 1 0 5
SCN5A 3 0 2 0 0 5
SMAD4 3 0 2 0 0 5
SMC1A 1 2 1 1 0 5
SMN1 4 1 0 0 0 5
SRD5A2 4 0 1 0 0 5
TAFAZZIN 2 1 2 0 0 5
TCF20 2 0 3 0 0 5
TCOF1 4 0 1 0 0 5
TRAPPC9 1 0 4 0 0 5
TRIP12 2 1 2 0 0 5
TRPS1 3 0 2 0 0 5
TTC7A 4 1 0 0 0 5
VPS13D 0 0 5 0 0 5
WDFY3 1 0 4 0 0 5
AARS2, POLR1C 3 0 1 0 0 4
ABCC9 1 1 2 0 0 4
ABCD1 2 1 1 0 0 4
ACADM 2 0 1 1 0 4
ACTA2 3 0 1 0 0 4
AHDC1 0 0 4 0 0 4
AHI1 1 0 3 0 0 4
ALDH7A1 3 1 0 0 0 4
AP5Z1 0 0 4 0 0 4
ARID1A 1 0 2 1 0 4
ARID2 3 0 1 0 0 4
AVPR2 3 1 0 0 0 4
BBS2 3 0 1 0 0 4
BCL11B 2 0 2 0 0 4
BMPR2 1 0 3 0 0 4
CACNA1G 1 0 3 0 0 4
CASR 1 3 0 0 0 4
CBS 1 0 3 0 0 4
CDK13 1 0 3 0 0 4
CHD1 0 0 4 0 0 4
CNGB3 3 1 0 0 0 4
COL5A2 1 1 2 0 0 4
CUL3 2 1 1 0 0 4
CUL4B 0 0 4 0 0 4
CYP1B1 1 1 2 0 0 4
CYP21A2, LOC106780800 3 1 0 0 0 4
DDC 1 3 0 0 0 4
DDX11 1 0 3 0 0 4
DLG4 2 0 2 0 0 4
EIF2B2 2 0 2 0 0 4
EMC1 1 0 3 0 0 4
GNB1 3 1 0 0 0 4
GPT2 0 0 4 0 0 4
GRIN2B 3 0 1 0 0 4
GTPBP3 0 0 4 0 0 4
HCFC1 0 0 4 0 0 4
HIVEP2 0 0 4 0 0 4
HMGCS2 0 3 1 0 0 4
HRAS, LRRC56 4 0 0 0 0 4
HSD17B4 1 3 0 0 0 4
JPH2 0 0 4 0 0 4
KIF11 2 1 1 0 0 4
KMT2E 2 0 1 1 0 4
L1CAM 2 0 2 0 0 4
LAS1L 0 0 4 0 0 4
LDB3 0 0 2 2 0 4
LOC126859690, PKHD1 0 2 2 0 0 4
MAPK8IP3 2 0 2 0 0 4
MCPH1 0 0 4 0 0 4
MECP2 3 1 0 0 0 4
MED12 1 0 2 1 0 4
MFSD8 2 1 1 0 0 4
MN1 1 1 2 0 0 4
MTM1 3 1 0 0 0 4
MYH7 2 1 1 0 0 4
MYOM1 0 0 3 1 0 4
NEBL 0 0 3 1 0 4
NEXN 0 0 4 0 0 4
OCRL 3 0 1 0 0 4
OTC 2 1 1 0 0 4
PCDH12, RNF14 1 0 3 0 0 4
PEX1 2 0 2 0 0 4
PI4KA 0 1 3 0 0 4
PIGN 0 0 4 0 0 4
POMGNT1, TSPAN1 3 0 1 0 0 4
PSEN1 2 1 1 0 0 4
PYGM 2 0 2 0 0 4
RAB3GAP2 0 0 4 0 0 4
RBM10 2 1 0 1 0 4
RECQL4 1 0 2 0 1 4
SACS 3 0 1 0 0 4
SCN3A 1 1 2 0 0 4
SGSH 0 1 3 0 0 4
SKI 0 1 2 1 0 4
SLC20A2 2 0 2 0 0 4
SLC52A2 3 0 1 0 0 4
SLC6A1 3 1 0 0 0 4
SMARCA4 1 0 3 0 0 4
SPINK5 4 0 0 0 0 4
SZT2 1 0 3 0 0 4
TANGO2 3 0 0 1 0 4
TAOK1 1 1 2 0 0 4
TBX5 1 0 3 0 0 4
TECRL 0 2 2 0 0 4
TGFB2 3 0 1 0 0 4
THOC6 0 3 1 0 0 4
TNRC6B 0 0 3 1 0 4
TPP1 4 0 0 0 0 4
TSC1 2 0 2 0 0 4
USH1C 2 1 1 0 0 4
ZBTB18 0 1 2 1 0 4
ZIC3 0 1 2 1 0 4
ZNF335 0 0 3 1 0 4
ABCA3 1 0 2 0 0 3
ADA2 3 0 0 0 0 3
AFG2A 2 0 1 0 0 3
AGK 3 0 0 0 0 3
AGL 2 0 1 0 0 3
AGXT 2 1 0 0 0 3
ALDOB 2 1 0 0 0 3
ALG3 1 1 1 0 0 3
ALS2 2 0 1 0 0 3
ANO10 1 2 0 0 0 3
AP4B1 2 0 1 0 0 3
AP4M1 1 1 1 0 0 3
APP 2 1 0 0 0 3
ASS1 3 0 0 0 0 3
ATL1 0 3 0 0 0 3
ATP6V1B1 3 0 0 0 0 3
AXDND1, NPHS2 0 1 2 0 0 3
BAZ2B 0 0 3 0 0 3
BBS10 1 2 0 0 0 3
BCHE 1 2 0 0 0 3
BCS1L 2 1 0 0 0 3
BIVM-ERCC5, ERCC5 1 0 2 0 0 3
BRAF 1 0 2 0 0 3
BTK 2 0 1 0 0 3
CACNA1H 0 0 3 0 0 3
CAD 0 0 3 0 0 3
CAMK2B 0 1 2 0 0 3
CASK 2 0 1 0 0 3
CCDC22 0 0 2 1 0 3
CHD5 0 0 3 0 0 3
CLASP1, RNU4ATAC 1 2 0 0 0 3
CNOT1 0 0 3 0 0 3
CNOT3 1 1 1 0 0 3
CNTNAP2 2 0 1 0 0 3
COL4A2 0 1 2 0 0 3
COL6A3 0 0 3 0 0 3
COL9A1 0 0 3 0 0 3
COX15 0 3 0 0 0 3
CSRP3 0 0 3 0 0 3
CTNNB1, LOC126806659 1 0 2 0 0 3
CUX2 0 0 3 0 0 3
DARS2 1 0 2 0 0 3
DCX 2 1 0 0 0 3
DDX3X 2 1 0 0 0 3
DLG3 0 0 3 0 0 3
DNMT1 0 0 2 1 0 3
DVL1 0 0 2 1 0 3
DYSF 1 0 2 0 0 3
EBF3 1 1 1 0 0 3
ECEL1 0 3 0 0 0 3
EEF1A2 1 1 0 1 0 3
ELN 0 1 2 0 0 3
ETFDH 2 1 0 0 0 3
EXOSC3 1 2 0 0 0 3
FAM111A 1 0 1 0 1 3
FAN1, MTMR10 2 1 0 0 0 3
FANCA 2 0 1 0 0 3
FAT1 0 0 3 0 0 3
FAT4 0 0 3 0 0 3
FBXL4 2 1 0 0 0 3
FDXR 0 1 2 0 0 3
FGFR2 1 1 1 0 0 3
FKTN 1 0 2 0 0 3
FLG 2 0 1 0 0 3
FLNA 0 0 3 0 0 3
FMN2 0 0 1 2 0 3
FN1 1 0 1 1 0 3
FOXP2 2 0 1 0 0 3
FOXRED1 1 1 1 0 0 3
GABRB2 0 0 3 0 0 3
GABRB3 1 0 2 0 0 3
GABRG2 0 1 2 0 0 3
GANAB 0 0 3 0 0 3
GATA6 1 0 2 0 0 3
GATAD1, PEX1 1 0 2 0 0 3
GLDC 2 1 0 0 0 3
GNAO1 2 1 0 0 0 3
GNRHR 3 0 0 0 0 3
GRIN2A 2 0 1 0 0 3
GYS2 3 0 0 0 0 3
HNF1B, LOC126862549 1 0 2 0 0 3
HNRNPU 0 0 3 0 0 3
IARS1 0 0 3 0 0 3
IBA57 2 1 0 0 0 3
IFT172 0 1 2 0 0 3
IGHMBP2 3 0 0 0 0 3
KANSL1 2 0 0 1 0 3
KCND3 0 3 0 0 0 3
KCNE2, LOC105372791 0 0 3 0 0 3
KCNH1 0 0 3 0 0 3
KCNJ2 2 0 1 0 0 3
KCNQ1 2 0 1 0 0 3
KDM6B 1 0 2 0 0 3
KIAA0586 2 0 1 0 0 3
KIAA0753 2 1 0 0 0 3
KIDINS220 1 0 2 0 0 3
KPTN 1 0 2 0 0 3
KRT1 1 0 2 0 0 3
LAMA4 0 0 3 0 0 3
LAMP2 1 0 1 1 0 3
LARP7 1 0 2 0 0 3
LARS2 1 2 0 0 0 3
LIPA 1 2 0 0 0 3
LMBRD2 0 1 1 1 0 3
LOC126863137, MYH9 0 1 2 0 0 3
LRPPRC 1 1 1 0 0 3
LSS 1 1 1 0 0 3
MAST1 1 1 1 0 0 3
MECOM 0 0 3 0 0 3
MEF2C 2 1 0 0 0 3
METTL23 2 1 0 0 0 3
MYO7A 0 0 3 0 0 3
MYORG 0 2 1 0 0 3
NDUFA9 0 1 2 0 0 3
NFKB1 1 1 1 0 0 3
NOTCH1 0 1 1 1 0 3
NPHP3, NPHP3-ACAD11 2 1 0 0 0 3
NR0B1 1 1 0 1 0 3
NR5A1 2 1 0 0 0 3
NUS1 2 0 1 0 0 3
PARS2 1 1 1 0 0 3
PAX6 1 1 1 0 0 3
PCCA 2 1 0 0 0 3
PDE6A 1 0 2 0 0 3
PGK1 0 0 3 0 0 3
PHF8 0 0 3 0 0 3
PIGA 0 0 3 0 0 3
PLPBP 3 0 0 0 0 3
PNPLA8 0 0 3 0 0 3
POLG, POLGARF 2 0 1 0 0 3
POLR3A 1 1 1 0 0 3
POMT1 0 0 3 0 0 3
PPOX 1 0 2 0 0 3
PPP2R5D 2 0 0 1 0 3
PPT1 3 0 0 0 0 3
PRDM16 0 1 2 0 0 3
PTPN23 0 0 3 0 0 3
RAI1 1 0 2 0 0 3
RAPSN 2 1 0 0 0 3
RARS1 0 1 2 0 0 3
RHOBTB2 1 0 2 0 0 3
RNASEH2C 1 1 1 0 0 3
ROBO3 2 0 1 0 0 3
RPGRIP1 0 0 3 0 0 3
SEC63 3 0 0 0 0 3
SERPINA1 3 0 0 0 0 3
SHANK2 2 0 1 0 0 3
SIN3A 1 1 1 0 0 3
SLC12A1 2 0 1 0 0 3
SLC2A1 2 1 0 0 0 3
SMPD4 1 0 2 0 0 3
SOS2 0 0 3 0 0 3
SOX6 1 1 1 0 0 3
SPEN 1 0 1 1 0 3
SPTBN1 1 1 0 1 0 3
SRCAP 2 0 1 0 0 3
STAG1 0 0 1 2 0 3
TAF1 0 0 3 0 0 3
TAF2 0 0 3 0 0 3
TCTN3 0 0 3 0 0 3
TENM3 1 0 2 0 0 3
TGFBR2 0 1 2 0 0 3
TLK2 2 0 0 1 0 3
TMEM67 2 0 1 0 0 3
TNNI3 3 0 0 0 0 3
TNXB 1 0 2 0 0 3
TOP3A 0 0 3 0 0 3
TRDN 0 0 3 0 0 3
TRIM63 0 0 3 0 0 3
TSFM 2 1 0 0 0 3
TUBB3 3 0 0 0 0 3
USP9X 1 1 1 0 0 3
ZC4H2 1 0 2 0 0 3
ZEB2 0 1 2 0 0 3
ZFHX4 1 1 1 0 0 3
ZMIZ1 0 0 3 0 0 3
ZNF462 0 0 3 0 0 3
ABCA12 1 0 1 0 0 2
ABCA4, LOC126805793 2 0 0 0 0 2
ACADS 1 0 0 1 0 2
ACO2 0 0 2 0 0 2
ACTC1, GJD2-DT 0 0 2 0 0 2
ACTG1 0 1 1 0 0 2
ACTG2 2 0 0 0 0 2
ACTN4 1 0 1 0 0 2
ADAMTS13 1 1 0 0 0 2
ADAMTSL2 0 0 1 1 0 2
ADGRG1 1 0 1 0 0 2
ADGRV1 0 0 2 0 0 2
AFF2 0 0 2 0 0 2
AFF4 0 0 2 0 0 2
AGPAT2 1 1 0 0 0 2
AIFM1, RAB33A 0 0 2 0 0 2
ALG1 2 0 0 0 0 2
ALOXE3 1 0 1 0 0 2
ANLN 0 0 2 0 0 2
APC2 0 0 2 0 0 2
ARFGEF2 0 0 2 0 0 2
ARHGAP31 0 0 2 0 0 2
ARHGAP35 1 1 0 0 0 2
ARMC9 0 0 2 0 0 2
ARSL 0 2 0 0 0 2
ASXL2 0 0 2 0 0 2
ASXL3 1 0 1 0 0 2
ATP1A1 1 0 1 0 0 2
ATP1A3 2 0 0 0 0 2
ATP6AP2 0 0 2 0 0 2
ATRIP, ATRIP-TREX1, TREX1 2 0 0 0 0 2
BBS7 1 0 1 0 0 2
BBS9 0 1 1 0 0 2
BCKDHB 2 0 0 0 0 2
BCL11A 0 0 2 0 0 2
BGN 0 1 1 0 0 2
BRCA1 1 0 1 0 0 2
BRD4 0 0 2 0 0 2
BRWD3 0 0 2 0 0 2
BTD 1 0 1 0 0 2
BUB1B 0 0 2 0 0 2
C1R 0 0 0 2 0 2
C2CD3 0 0 2 0 0 2
CACNA1F 2 0 0 0 0 2
CACNB2 0 0 2 0 0 2
CAMK2A 1 0 1 0 0 2
CAMTA1 0 0 1 1 0 2
CARD14 1 0 1 0 0 2
CARS1 0 0 2 0 0 2
CBL 1 0 1 0 0 2
CCDC39 1 0 1 0 0 2
CCN6 2 0 0 0 0 2
CCND2 1 0 1 0 0 2
CDAN1 0 0 2 0 0 2
CDON 0 0 2 0 0 2
CEP104 0 0 2 0 0 2
CERKL 2 0 0 0 0 2
CFTR 2 0 0 0 0 2
CHAT 1 1 0 0 0 2
CHRDL1 1 1 0 0 0 2
CIT 0 0 2 0 0 2
CKAP2L 1 0 1 0 0 2
CLCN4 0 0 2 0 0 2
CLCN6 0 0 2 0 0 2
CLCNKB, LOC106501713 2 0 0 0 0 2
CLN3 1 1 0 0 0 2
CLTC 0 1 1 0 0 2
CNGA3 2 0 0 0 0 2
COG8 0 0 2 0 0 2
COL12A1 0 0 1 1 0 2
COL13A1 1 0 1 0 0 2
COL1A1, LOC126862586 2 0 0 0 0 2
COL25A1 0 2 0 0 0 2
COLQ 2 0 0 0 0 2
COQ7 0 0 2 0 0 2
CPT2 2 0 0 0 0 2
CRPPA 1 0 1 0 0 2
CRTAP 2 0 0 0 0 2
CSNK2A1 2 0 0 0 0 2
CSNK2B 0 0 2 0 0 2
CTC1 0 0 2 0 0 2
CTNNA3 0 0 2 0 0 2
CYBB 2 0 0 0 0 2
CYP27A1 1 0 1 0 0 2
CYP2U1 0 1 1 0 0 2
DAG1 0 0 2 0 0 2
DARS1 0 1 1 0 0 2
DIPK1A, RPL5 0 0 2 0 0 2
DIS3L2 0 0 2 0 0 2
DNAH9 0 0 2 0 0 2
DNAI1 1 0 1 0 0 2
DNAJC21 1 1 0 0 0 2
DNM1L 1 1 0 0 0 2
DOCK7 2 0 0 0 0 2
DONSON 1 0 0 1 0 2
DYNC2LI1 0 0 2 0 0 2
EARS2 0 0 2 0 0 2
EEF1D 0 1 1 0 0 2
EEF2 0 0 2 0 0 2
EFEMP2 0 0 2 0 0 2
EIF2B4 1 1 0 0 0 2
EIF2B5 2 0 0 0 0 2
ELAC2 0 0 1 1 0 2
ELP2 1 1 0 0 0 2
ENO3 0 1 1 0 0 2
ENPP1 0 2 0 0 0 2
EPAS1 2 0 0 0 0 2
EPHB4, LOC126860124 1 1 0 0 0 2
EPRS1 0 0 2 0 0 2
ERCC1 2 0 0 0 0 2
ERCC2 1 1 0 0 0 2
ERCC3 2 0 0 0 0 2
ERCC4 0 0 1 1 0 2
ERCC6 1 1 0 0 0 2
ETFA 2 0 0 0 0 2
ETHE1 1 0 1 0 0 2
EYA1 2 0 0 0 0 2
EYS, PHF3 2 0 0 0 0 2
EZH2 1 0 1 0 0 2
FA2H 1 0 1 0 0 2
FBXO11 1 0 1 0 0 2
FGD1 1 0 1 0 0 2
FGFR1 2 0 0 0 0 2
FLCN 2 0 0 0 0 2
FLT4 1 0 1 0 0 2
FOXG1 1 1 0 0 0 2
FOXL2 2 0 0 0 0 2
FZD4 2 0 0 0 0 2
GABRD 1 0 1 0 0 2
GALNT3 2 0 0 0 0 2
GALT 2 0 0 0 0 2
GBE1 1 0 1 0 0 2
GCDH 2 0 0 0 0 2
GFER 0 1 1 0 0 2
GJB1 1 1 0 0 0 2
GLI2 0 0 2 0 0 2
GLMN 2 0 0 0 0 2
GPAA1 2 0 0 0 0 2
GRHPR 1 1 0 0 0 2
GUSB, LOC126860055 1 0 1 0 0 2
H4C3 1 1 0 0 0 2
HADH 0 2 0 0 0 2
HBA-LCR, NPRL3 1 0 0 1 0 2
HDAC4 0 0 2 0 0 2
HDAC8 1 1 0 0 0 2
HERC1 0 0 2 0 0 2
HERC2 0 0 2 0 0 2
HEXB 1 0 1 0 0 2
HGSNAT 0 0 2 0 0 2
HJV 0 0 2 0 0 2
HLCS 1 1 0 0 0 2
HNF1A 2 0 0 0 0 2
HNRNPK 1 1 0 0 0 2
HSD17B4, LOC129994460 2 0 0 0 0 2
HSPG2 0 0 2 0 0 2
HYLS1, PUS3 2 0 0 0 0 2
IDS, LOC106050102 0 1 1 0 0 2
INPP5E 1 1 0 0 0 2
INVS 1 1 0 0 0 2
IQSEC1 0 0 2 0 0 2
IREB2 0 0 2 0 0 2
KCNJ8 0 0 1 1 0 2
KCNQ4 0 1 1 0 0 2
KCNT2 0 1 1 0 0 2
KCTD7 1 1 0 0 0 2
KIF14 0 0 2 0 0 2
KIF21B 0 1 1 0 0 2
KIF22 1 0 1 0 0 2
KIF5C 0 0 2 0 0 2
KMT2B 0 0 2 0 0 2
KMT5B 0 1 1 0 0 2
KRAS 2 0 0 0 0 2
LAMC2 1 0 1 0 0 2
LARS1 1 1 0 0 0 2
LDB3, LOC110121486 1 0 1 0 0 2
LINS1 1 0 1 0 0 2
LIPT1, MITD1 1 1 0 0 0 2
LMX1B 1 0 1 0 0 2
LOC114827851, MYH6 0 0 2 0 0 2
LOC123956210, SLC26A4 2 0 0 0 0 2
LOC126806878, TBL1XR1 0 1 1 0 0 2
LOC127814297, POU4F3 0 0 2 0 0 2
LRRK2 0 0 2 0 0 2
MADD 1 0 1 0 0 2
MAF 0 0 2 0 0 2
MAN1B1 0 1 1 0 0 2
MAN2B1 2 0 0 0 0 2
MAN2C1, NEIL1 0 1 1 0 0 2
MANBA 0 2 0 0 0 2
MAP1B 0 0 2 0 0 2
MAP3K1 0 0 1 0 1 2
MBOAT7 2 0 0 0 0 2
MCM3AP 1 1 0 0 0 2
MED13 1 0 1 0 0 2
MEN1 2 0 0 0 0 2
MFSD2A 0 0 2 0 0 2
MIR1225, PKD1 1 0 1 0 0 2
MNX1 1 0 1 0 0 2
MOCS1 2 0 0 0 0 2
MORC2 1 1 0 0 0 2
MPDZ 1 0 1 0 0 2
MPL 1 1 0 0 0 2
MRPL39 0 2 0 0 0 2
MSL3 1 0 0 1 0 2
MTPAP 0 0 2 0 0 2
MYCN, MYCNOS 1 0 1 0 0 2
MYH14 0 0 2 0 0 2
MYH8, MYHAS 1 0 1 0 0 2
MYL2 0 0 2 0 0 2
MYLK 0 0 2 0 0 2
MYMK 1 1 0 0 0 2
MYO19, PIGW 0 0 2 0 0 2
MYO5B, SNHG22 1 1 0 0 0 2
NAA15 1 0 1 0 0 2
NAXD 1 1 0 0 0 2
NCKAP1 0 0 1 1 0 2
NDE1 0 0 2 0 0 2
NDP 1 1 0 0 0 2
NDUFA10 0 0 2 0 0 2
NDUFAF6 1 1 0 0 0 2
NDUFS7 0 2 0 0 0 2
NEUROD2 0 0 2 0 0 2
NEXMIF 1 0 1 0 0 2
NFIX 2 0 0 0 0 2
NGLY1 0 2 0 0 0 2
NKX2-5 1 0 1 0 0 2
NODAL 0 1 1 0 0 2
NPHP3-ACAD11, UBA5 1 1 0 0 0 2
NPHP4 1 0 1 0 0 2
NPHS2 0 1 1 0 0 2
NR2F2 0 1 1 0 0 2
NRAS 2 0 0 0 0 2
NSD2 1 0 1 0 0 2
NUP214 1 0 1 0 0 2
OFD1 1 0 1 0 0 2
OSGEP 1 1 0 0 0 2
OTOA 1 0 1 0 0 2
P3H1 1 0 1 0 0 2
PACS1 1 0 1 0 0 2
PAX1 0 0 2 0 0 2
PFN1 0 1 0 1 0 2
PGAP3 0 1 1 0 0 2
PHEX, PTCHD1 2 0 0 0 0 2
PHIP 1 1 0 0 0 2
PITPNM3 0 0 1 1 0 2
PKD1L1 1 0 1 0 0 2
PLA2G6 1 0 1 0 0 2
PLCE1 0 0 2 0 0 2
PMPCB 0 0 2 0 0 2
PNKP 2 0 0 0 0 2
PNPLA2 0 0 2 0 0 2
POGZ 0 0 1 1 0 2
POLE 1 0 1 0 0 2
POR 1 0 0 0 1 2
POU3F4 0 1 1 0 0 2
PPP1CB 2 0 0 0 0 2
PPP1R12A 0 0 2 0 0 2
PRKAG2 2 0 0 0 0 2
PRKD1 0 0 2 0 0 2
PRKN 2 0 0 0 0 2
PROKR2 0 2 0 0 0 2
PRPF31 1 0 1 0 0 2
PRPF4 0 0 2 0 0 2
PRR12 1 0 1 0 0 2
PSAT1 1 0 1 0 0 2
QRICH1 0 0 2 0 0 2
RAB11B 1 0 1 0 0 2
RAD51 0 1 1 0 0 2
RAG2 1 0 0 1 0 2
RANBP2 1 0 1 0 0 2
RBBP8 0 2 0 0 0 2
RMRP 2 0 0 0 0 2
ROBO4 0 0 2 0 0 2
RPGRIP1L 0 1 1 0 0 2
RUNX2 2 0 0 0 0 2
SALL1 0 0 2 0 0 2
SALL4 1 0 1 0 0 2
SAMHD1 0 1 1 0 0 2
SBDS 2 0 0 0 0 2
SBF1 0 1 1 0 0 2
SCAF4 1 0 1 0 0 2
SCN11A 0 0 2 0 0 2
SDHA 1 1 0 0 0 2
SEC23B 2 0 0 0 0 2
SHH 0 1 1 0 0 2
SIGMAR1 1 1 0 0 0 2
SLC17A5 1 1 0 0 0 2
SLC19A3 1 1 0 0 0 2
SLC37A4 2 0 0 0 0 2
SLC5A6 1 1 0 0 0 2
SLX4 0 0 2 0 0 2
SMAD2 1 0 1 0 0 2
SMAD6 0 0 2 0 0 2
SMARCB1 1 0 1 0 0 2
SORD 1 0 1 0 0 2
SOX11 0 1 1 0 0 2
SOX5 0 0 2 0 0 2
SPATA7 2 0 0 0 0 2
SPRED1 2 0 0 0 0 2
SPTB 0 1 1 0 0 2
SPTBN4 0 0 2 0 0 2
SSR4 0 0 2 0 0 2
TANC2 0 0 2 0 0 2
TARS2 0 0 2 0 0 2
TBCEL-TECTA, TECTA 0 1 1 0 0 2
TBK1 1 0 1 0 0 2
TCTN1 1 1 0 0 0 2
TELO2 1 0 1 0 0 2
TGM1 2 0 0 0 0 2
TH 2 0 0 0 0 2
THAP1 0 1 1 0 0 2
THOC2 1 0 1 0 0 2
THSD4 0 0 2 0 0 2
TINF2 0 0 2 0 0 2
TJP2 1 0 1 0 0 2
TK2 2 0 0 0 0 2
TLL1 0 0 2 0 0 2
TMEM237 2 0 0 0 0 2
TNR 0 0 2 0 0 2
TONSL 1 0 1 0 0 2
TP53RK 0 0 2 0 0 2
TRAF7 1 0 1 0 0 2
TRAPPC12 0 0 2 0 0 2
TRIM8 2 0 0 0 0 2
TRIOBP 0 0 2 0 0 2
TRIP13 0 0 2 0 0 2
TRPM3 0 0 1 1 0 2
TUBB 0 1 1 0 0 2
TWIST1 1 0 0 1 0 2
TYMP 0 1 1 0 0 2
UBE3B 0 0 2 0 0 2
UGDH 1 0 1 0 0 2
UPF3B 1 0 1 0 0 2
USP53 0 0 2 0 0 2
VPS11 0 0 2 0 0 2
VPS13C 0 0 2 0 0 2
WAS 2 0 0 0 0 2
WDR11 0 0 2 0 0 2
WDR35 0 0 2 0 0 2
WDR81 1 1 0 0 0 2
WT1 2 0 0 0 0 2
WWOX 1 0 1 0 0 2
XPA 2 0 0 0 0 2
ZBTB20 0 0 1 1 0 2
ZDHHC9 0 0 1 0 1 2
ZIC2 0 0 2 0 0 2
AAAS 0 0 1 0 0 1
AARS1 0 0 1 0 0 1
ABCA12, SNHG31 1 0 0 0 0 1
ABCB11 1 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC129390770, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NTAN1, PDXDC1, PLA2G10, RRN3 0 0 1 0 0 1
ABCC8 1 0 0 0 0 1
ABCD1, BCAP31, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, PLXNB3, SRPK3 1 0 0 0 0 1
ABCG5, DYNC2LI1 0 0 1 0 0 1
ABCG8 1 0 0 0 0 1
ABL1, LOC107980440 0 1 0 0 0 1
ACAD9, CFAP92 1 0 0 0 0 1
ACADVL, DLG4 0 1 0 0 0 1
ACAT1 1 0 0 0 0 1
ACSL4 0 0 1 0 0 1
ACTN1 0 0 1 0 0 1
ADA 1 0 0 0 0 1
ADAMTS10 0 0 0 1 0 1
ADAMTS2 0 0 1 0 0 1
ADAMTSL4 1 0 0 0 0 1
ADAR 0 1 0 0 0 1
ADAT3, SCAMP4 0 0 1 0 0 1
AFG2B 1 0 0 0 0 1
AGO1 0 0 1 0 0 1
AK2, LOC129930068 1 0 0 0 0 1
AKAP9 0 0 1 0 0 1
AKT1 0 0 1 0 0 1
AKT3 1 0 0 0 0 1
ALDH5A1 1 0 0 0 0 1
ALDH6A1, BBOF1 0 0 1 0 0 1
ALG1, LOC130058384 1 0 0 0 0 1
ALG13 0 0 1 0 0 1
ALG2 0 0 1 0 0 1
ALG6 1 0 0 0 0 1
ALG9 1 0 0 0 0 1
ALPK1 1 0 0 0 0 1
ALPK1, ANK2, AP1AR, AP1AR-DT, FAM241A, LARP7, LINC02945, LOC105377366, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC112935973, LOC112935974, LOC112935975, LOC123477806, LOC123477807, LOC123477808, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC132089000, LOC132089001, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, NEUROG2, PITX2, TIFA, ZGRF1 0 1 0 0 0 1
ALPK3, LOC111718493 0 0 1 0 0 1
AMH 1 0 0 0 0 1
AMPD2 0 0 1 0 0 1
AMPD2, LOC126805822 1 0 0 0 0 1
AMT 0 1 0 0 0 1
AMT, NICN1 1 0 0 0 0 1
ANK2 0 0 1 0 0 1
ANK2, LOC126807136 0 0 1 0 0 1
ANKRD1 0 0 1 0 0 1
ANKRD17 0 0 1 0 0 1
ANO3 0 0 1 0 0 1
ANO5 1 0 0 0 0 1
AOPEP, FANCC 0 1 0 0 0 1
AP1G1 0 0 1 0 0 1
AP4S1 0 0 1 0 0 1
ARCN1 0 0 1 0 0 1
ARFGEF1 0 0 1 0 0 1
ARFGEF3 0 0 1 0 0 1
ARHGAP29 1 0 0 0 0 1
ARHGEF18 0 0 1 0 0 1
ARL6 1 0 0 0 0 1
ARSB 1 0 0 0 0 1
ARX 1 0 0 0 0 1
ASCC1 1 0 0 0 0 1
ASL 1 0 0 0 0 1
ASNS, CZ1P-ASNS 1 0 0 0 0 1
ASPA, SPATA22 1 0 0 0 0 1
ATL3 0 0 1 0 0 1
ATP6AP1, CTAG1A, CTAG1B, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 1 0 0 0 1
ATP6V0A2 0 0 1 0 0 1
ATP6V1B2 1 0 0 0 0 1
ATP8A2 0 0 1 0 0 1
ATRX 1 0 0 0 0 1
ATXN7L3, UBTF 1 0 0 0 0 1
AUH 1 0 0 0 0 1
AVP 1 0 0 0 0 1
B3GALNT2 0 0 1 0 0 1
B3GALNT2, TBCE 0 0 1 0 0 1
B3GALT6 0 0 1 0 0 1
B4GALT7, LOC129995400 1 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 1
BCOR 1 0 0 0 0 1
BICD2 0 0 0 1 0 1
BICRA 0 0 1 0 0 1
BLOC1S1-RDH5, CD63, RDH5 0 0 1 0 0 1
BMP2 0 1 0 0 0 1
BMP4 0 0 1 0 0 1
BOLA3 1 0 0 0 0 1
BPTF, LOC130061496 0 0 0 0 1 1
BRF1 0 0 1 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 1
C10orf105, CDH23 0 0 1 0 0 1
C12orf4 1 0 0 0 0 1
C1QA 0 0 1 0 0 1
CABP4 1 0 0 0 0 1
CACNA1A, LOC126862866 0 0 1 0 0 1
CACNA2D1 0 0 1 0 0 1
CACNA2D2 1 0 0 0 0 1
CALM2 0 0 1 0 0 1
CALM3 1 0 0 0 0 1
CALR3 0 0 1 0 0 1
CAPN1 0 0 1 0 0 1
CARD9 0 0 1 0 0 1
CARS2 0 0 1 0 0 1
CASQ2 0 1 0 0 0 1
CC2D1A 1 0 0 0 0 1
CCDC115 0 0 1 0 0 1
CCDC50 0 0 1 0 0 1
CCDC65 0 0 1 0 0 1
CCDST, FLG 1 0 0 0 0 1
CCNF 0 0 1 0 0 1
CD40LG 1 0 0 0 0 1
CDH1 0 0 1 0 0 1
CDK13, LOC129998292 0 0 1 0 0 1
CDK19 0 0 0 1 0 1
CDK8 0 0 1 0 0 1
CDK8, LOC130009416 0 0 1 0 0 1
CDKL5, RS1 1 0 0 0 0 1
CENPE 0 0 1 0 0 1
CEP135 1 0 0 0 0 1
CEP290, RLIG1 1 0 0 0 0 1
CEP85L 0 1 0 0 0 1
CEP85L, PLN 1 0 0 0 0 1
CERS1, GDF1 0 1 0 0 0 1
CERS1, GDF1, UPF1 1 0 0 0 0 1
CFAP410 0 0 1 0 0 1
CFH, CFHR1, CFHR3, LOC126805964, LOC129388721, LOC129932153 1 0 0 0 0 1
CFI 1 0 0 0 0 1
CHD8, LOC126861888 0 0 1 0 0 1
CHRNA4 1 0 0 0 0 1
CHST3 0 1 0 0 0 1
CITED2 0 0 1 0 0 1
CLCN7 0 1 0 0 0 1
CLDN14 1 0 0 0 0 1
CLDN16 1 0 0 0 0 1
CLDN19 0 1 0 0 0 1
CLTC, LOC125177523 0 0 1 0 0 1
CNKSR1 0 0 1 0 0 1
CNKSR2 1 0 0 0 0 1
CNOT2 0 0 1 0 0 1
CNPY3, CNPY3-GNMT 0 0 1 0 0 1
COASY 1 0 0 0 0 1
COCH, LOC100506071 0 1 0 0 0 1
COG6 0 0 1 0 0 1
COL10A1, NT5DC1 0 0 1 0 0 1
COL1A2 0 1 0 0 0 1
COL27A1 0 1 0 0 0 1
COL4A6 0 0 1 0 0 1
CPT1C 0 0 1 0 0 1
CRPPA, LOC129998005 1 0 0 0 0 1
CRYAB 0 1 0 0 0 1
CRYGS 0 0 1 0 0 1
CRYL1, GJB6, LOC112163647, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC132090175, MIR4499 1 0 0 0 0 1
CRYM, LOC130058620 0 0 1 0 0 1
CSF3R 0 0 1 0 0 1
CSGALNACT1 0 0 1 0 0 1
CTDP1 0 0 1 0 0 1
CTNNA2 0 0 1 0 0 1
CTNNB1, LOC126806658 1 0 0 0 0 1
CTNND2 0 0 1 0 0 1
CTNS, LOC126862464, LOC130059979, LOC130059980, LOC130059981, SHPK, TRPV1 1 0 0 0 0 1
CTSA 1 0 0 0 0 1
CUX1 1 0 0 0 0 1
CYP11A1 0 0 1 0 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 0 0 1
CYP4V2 0 0 1 0 0 1
CYP7B1 0 0 1 0 0 1
D2HGDH 0 1 0 0 0 1
D2HGDH, LOC129936031 1 0 0 0 0 1
DDB1 0 0 1 0 0 1
DDHD1 0 0 1 0 0 1
DDHD2 0 1 0 0 0 1
DDX23 0 1 0 0 0 1
DDX6 0 0 1 0 0 1
DHH 0 0 1 0 0 1
DHX16 0 0 1 0 0 1
DHX30 1 0 0 0 0 1
DIP2B 0 0 1 0 0 1
DKC1 0 0 0 1 0 1
DLD 1 0 0 0 0 1
DLL1 0 0 1 0 0 1
DMD, LOC129391296 1 0 0 0 0 1
DMXL2 0 0 1 0 0 1
DNAAF4, DNAAF4-CCPG1 1 0 0 0 0 1
DNAJB11 1 0 0 0 0 1
DNAJB13 1 0 0 0 0 1
DNM1 0 0 1 0 0 1
DNMBP 0 0 1 0 0 1
DNMT3A, LOC129933288 0 0 1 0 0 1
DNMT3A, LOC129933290 0 0 1 0 0 1
DOK7 1 0 0 0 0 1
DPF2 0 1 0 0 0 1
DPM1 1 0 0 0 0 1
DSG1, DSG4 0 0 1 0 0 1
DSG2 1 0 0 0 0 1
DSP 1 0 0 0 0 1
DST 0 0 1 0 0 1
DTNA 0 0 1 0 0 1
DUOXA2 1 0 0 0 0 1
DYNC1H1, LOC130056502 0 1 0 0 0 1
DYNC2I1, ESYT2, LINC00689, LOC108254663, LOC123956285, LOC126860262, LOC129999757, LOC129999758, LOC129999759, LOC129999760, LOC129999761, LOC129999762, LOC129999763, LOC129999764, LOC129999765, LOC129999766, VIPR2 0 0 1 0 0 1
EBP 1 0 0 0 0 1
EDA 1 0 0 0 0 1
EED 1 0 0 0 0 1
EFL1 0 0 1 0 0 1
EFNB1 0 1 0 0 0 1
EIF2B1, LOC126861664 1 0 0 0 0 1
EIF2B3 0 0 1 0 0 1
EIF2B4, GTF3C2 1 0 0 0 0 1
ELOVL5 0 0 1 0 0 1
EMD 1 0 0 0 0 1
EME2, MRPS34 1 0 0 0 0 1
EML1 0 0 1 0 0 1
EML1, LOC126862047 0 0 1 0 0 1
EPB41L1 0 0 1 0 0 1
EPHA2 0 0 1 0 0 1
ERCC8, NDUFAF2 1 0 0 0 0 1
ESPN 0 0 1 0 0 1
ESRRB 0 1 0 0 0 1
ETFB 0 1 0 0 0 1
ETV6 0 0 1 0 0 1
ETV6, LOC126861452 0 0 1 0 0 1
EXOC7 0 0 1 0 0 1
EXPH5 1 0 0 0 0 1
EXT1 1 0 0 0 0 1
EYA4, LOC126859796, TARID 0 0 1 0 0 1
EYS 1 0 0 0 0 1
F13B 1 0 0 0 0 1
F2 1 0 0 0 0 1
F9 0 0 1 0 0 1
FAN1 0 0 1 0 0 1
FANCB 0 0 0 1 0 1
FANCC 1 0 0 0 0 1
FANCD2, LOC107303338 0 0 1 0 0 1
FANCG 0 0 1 0 0 1
FBRSL1, GALNT9, LOC101928416, LOC110599568, LOC126861697, LOC126861698, LOC126861699, LOC130009250, LOC130009251, LOC130009252, LOC130009253, LOC130009254, LOC130009255, LOC130009256, LOC130009257, LOC130009258, MUC8 0 0 1 0 0 1
FBXW7 0 1 0 0 0 1
FDFT1, LOC129999907 0 0 1 0 0 1
FECH 1 0 0 0 0 1
FECH, LOC130062560 1 0 0 0 0 1
FGA 1 0 0 0 0 1
FGF10 1 0 0 0 0 1
FGF3 0 0 1 0 0 1
FGF9 0 1 0 0 0 1
FGFR3 1 0 0 0 0 1
FHL1 1 0 0 0 0 1
FHOD3, LOC130062385 0 0 1 0 0 1
FKBP10 0 0 1 0 0 1
FLII 0 1 0 0 0 1
FMO3, LOC126805916 1 0 0 0 0 1
FN1, LOC126806496 0 0 1 0 0 1
FOLR1 0 0 1 0 0 1
FOXC1 1 0 0 0 0 1
FOXC2 1 0 0 0 0 1
FOXF1 1 0 0 0 0 1
FOXP1, LOC126806714 0 0 1 0 0 1
FOXP3 0 0 1 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 1 0 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 0 0 1
FREM2 0 0 1 0 0 1
FRMD7 1 0 0 0 0 1
FRMPD4 0 0 1 0 0 1
FSCN2 0 0 1 0 0 1
FTCD 0 0 1 0 0 1
FZD2 1 0 0 0 0 1
G6PD, IKBKG 1 0 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 0 1 0 1
GABBR2 0 0 1 0 0 1
GABRA5 1 0 0 0 0 1
GABRB1 0 0 1 0 0 1
GAMT 1 0 0 0 0 1
GAS2L2 0 0 1 0 0 1
GATA1 1 0 0 0 0 1
GATAD2B 1 0 0 0 0 1
GBF1 0 0 1 0 0 1
GDF9 0 0 1 0 0 1
GFER, LOC130058203 0 0 1 0 0 1
GFM2 0 0 1 0 0 1
GIGYF1 0 0 1 0 0 1
GJA8 1 0 0 0 0 1
GJB6 0 0 1 0 0 1
GLB1, LOC129936434, TMPPE 1 0 0 0 0 1
GLDN 1 0 0 0 0 1
GLRX5 0 0 1 0 0 1
GLS 0 0 1 0 0 1
GM2A 1 0 0 0 0 1
GNAI1 0 0 1 0 0 1
GNAL 0 0 1 0 0 1
GNAT2 1 0 0 0 0 1
GNB2 0 0 1 0 0 1
GNB4 0 0 1 0 0 1
GPC3 0 0 1 0 0 1
GPC4 0 0 1 0 0 1
GPC6 0 0 1 0 0 1
GPD1L 0 0 1 0 0 1
GPR143 1 0 0 0 0 1
GPR179 1 0 0 0 0 1
GPR68 0 0 1 0 0 1
GPSM2 1 0 0 0 0 1
GRIA1 0 0 1 0 0 1
GRIA2 0 0 1 0 0 1
GRIA3 0 1 0 0 0 1
GRIK2 1 0 0 0 0 1
GRIN1 0 1 0 0 0 1
GRXCR1 1 0 0 0 0 1
GSC 0 0 1 0 0 1
GTF3C3 0 0 1 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 0 0 1 0 0 1
GYS2, LOC126861480 0 0 1 0 0 1
H4C5, LOC129996027 0 0 1 0 0 1
HAFML, VEGFC 0 0 0 1 0 1
HARS2 0 0 1 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 1
HCN1 0 0 1 0 0 1
HCN4 0 0 1 0 0 1
HFE 1 0 0 0 0 1
HMBS 0 0 1 0 0 1
HMGCL 1 0 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HOGA1 1 0 0 0 0 1
HOXA13, LOC107126288 0 1 0 0 0 1
HPRT1 1 0 0 0 0 1
HPS5 0 0 1 0 0 1
HPS5, LOC130005404 0 0 0 1 0 1
HSALR1, PIEZO1 0 0 0 1 0 1
HSD17B10 1 0 0 0 0 1
HSD17B3, SLC35D2-HSD17B3 1 0 0 0 0 1
HSPB1 1 0 0 0 0 1
HSPB8 1 0 0 0 0 1
IDH2 1 0 0 0 0 1
IDUA 1 0 0 0 0 1
IFITM5, PGGHG 1 0 0 0 0 1
IFT172, KRTCAP3 1 0 0 0 0 1
IKBKG 0 0 0 1 0 1
IL2RG 1 0 0 0 0 1
IL2RG, LOC126863274 0 0 1 0 0 1
IMPDH1 0 0 1 0 0 1
INSL3 0 0 1 0 0 1
IRAK1BP1, PHIP 0 0 1 0 0 1
ITPA 0 0 1 0 0 1
ITSN1 0 0 1 0 0 1
JMJD1C 0 0 1 0 0 1
KAT8 0 0 1 0 0 1
KBTBD13 0 0 1 0 0 1
KCNA1 0 1 0 0 0 1
KCNA2 0 0 1 0 0 1
KCNA5 0 0 1 0 0 1
KCNC3 1 0 0 0 0 1
KCNJ5 0 0 1 0 0 1
KCNK18 0 0 1 0 0 1
KCNK9 1 0 0 0 0 1
KCNN2, LOC101927078 0 1 0 0 0 1
KCNQ5 0 1 0 0 0 1
KDM5B 1 0 0 0 0 1
KIF1C 0 0 0 1 0 1
KIF21A 1 0 0 0 0 1
KIF5A 0 0 1 0 0 1
KIF7 0 0 1 0 0 1
KIRREL2, NPHS1 0 0 1 0 0 1
KLF7 0 1 0 0 0 1
KLF9-DT, TRPM3 0 0 1 0 0 1
KLHL40 0 0 1 0 0 1
KMT2A, TTC36 1 0 0 0 0 1
KRT17 1 0 0 0 0 1
KRT6A 0 0 1 0 0 1
L2HGDH 0 0 1 0 0 1
LAMB1 0 0 1 0 0 1
LAMB2, LOC129936738 1 0 0 0 0 1
LBR 0 1 0 0 0 1
LEMD3 1 0 0 0 0 1
LHB 0 0 0 1 0 1
LHFPL5 1 0 0 0 0 1
LIG3 0 1 0 0 0 1
LMOD3, LOC126806710 0 0 1 0 0 1
LMX1A 0 0 1 0 0 1
LOC100130357, LOC129995804, PHACTR1, TBC1D7-LOC100130357 0 0 1 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 1
LOC105371856, TANC2 0 0 1 0 0 1
LOC108021846, SOX9 1 0 0 0 0 1
LOC108281134, SOX3 0 0 1 0 0 1
LOC112486209, LOC132090435, WWOX 1 0 0 0 0 1
LOC112806077, LOC129935569, MARCHF4, SMARCAL1 0 1 0 0 0 1
LOC113788277, PLPBP 0 0 1 0 0 1
LOC117038795, RNASEH2A 1 0 0 0 0 1
LOC121627832, TCF4 1 0 0 0 0 1
LOC121852963, RNF125 0 0 0 1 0 1
LOC122152296, USH2A 1 0 0 0 0 1
LOC125446261, MLC1 0 1 0 0 0 1
LOC126653398, TSPEAR 0 0 1 0 0 1
LOC126806068, RYR2 0 1 0 0 0 1
LOC126806211, TTC7A 0 0 1 0 0 1
LOC126806306, NPHP1 1 0 0 0 0 1
LOC126806608, WNT7A 0 0 1 0 0 1
LOC126807011, RBPJ 0 0 1 0 0 1
LOC126859646, VARS2 1 0 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 1
LOC126859871, PRKN 0 0 1 0 0 1
LOC126860075, POR 1 0 0 0 0 1
LOC126861242, NDUFV1 1 0 0 0 0 1
LOC126861356, SCN4B 0 0 1 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 0 1 0 0 1
LOC126861897, MHRT, MYH7 0 1 0 0 0 1
LOC126861898, MYH7 1 0 0 0 0 1
LOC126862361, SLC12A3 1 0 0 0 0 1
LOC126862987, SEC23B 1 0 0 0 0 1
LOC126863160, NAGA 0 0 1 0 0 1
LOC126863253, UBA1 1 0 0 0 0 1
LOC129935594, PNKD 1 0 0 0 0 1
LOC129936736, QARS1 0 0 0 1 0 1
LOC129992813, PKD2 1 0 0 0 0 1
LOC129992876, SLC39A8 0 0 1 0 0 1
LOC129994826, PURA 1 0 0 0 0 1
LOC129996910, QRSL1, RTN4IP1 0 0 1 0 0 1
LOC129998833, SLC25A13 0 0 1 0 0 1
LOC129999056, PMPCB 0 0 1 0 0 1
LOC129999735, MNX1 1 0 0 0 0 1
LOC130000962, OXR1 0 0 1 0 0 1
LOC130002651, STXBP1 0 1 0 0 0 1
LOC130005368, RRAS2 1 0 0 0 0 1
LOC130007872, SMARCD1 0 0 1 0 0 1
LOC130057222, TPM1 0 0 1 0 0 1
LOC130057889, MESP1 0 0 1 0 0 1
LOC130058173, MAPK8IP3 0 1 0 0 0 1
LOC130064279, SDHAF1 1 0 0 0 0 1
LOC130067862, SCO2, TYMP 0 0 1 0 0 1
LOC130068202, RP2 0 0 1 0 0 1
LOC130068796, MTM1 1 0 0 0 0 1
LONP1 0 0 1 0 0 1
LORICRIN 1 0 0 0 0 1
LOX, SRFBP1 0 1 0 0 0 1
LPAR6, RB1 0 0 1 0 0 1
LRBA 0 0 1 0 0 1
LRP6 1 0 0 0 0 1
LRRC37A2, NSF 0 0 1 0 0 1
LRRC51, LRTOMT 0 0 1 0 0 1
LRTOMT, TOMT 1 0 0 0 0 1
LTBP4 0 0 1 0 0 1
MACF1 0 1 0 0 0 1
MAGED2 0 1 0 0 0 1
MAGI2 0 0 1 0 0 1
MALT1 0 1 0 0 0 1
MAMLD1 0 0 1 0 0 1
MAP2K1 1 0 0 0 0 1
MAP3K7 0 1 0 0 0 1
MAPK1 0 0 1 0 0 1
MAPKAPK5 0 0 1 0 0 1
MAPKBP1 0 0 1 0 0 1
MARS2 0 0 1 0 0 1
MARVELD2 1 0 0 0 0 1
MAST3 0 0 1 0 0 1
MBD4 0 1 0 0 0 1
MCCC2 1 0 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 1
MED12L, P2RY12 0 0 1 0 0 1
MED23 0 0 1 0 0 1
METTL5 0 1 0 0 0 1
MHRT, MYH7 0 0 0 1 0 1
MIB1 0 0 1 0 0 1
MID1 0 0 1 0 0 1
MIP 1 0 0 0 0 1
MIPEP 0 1 0 0 0 1
MIR3911, STXBP1 0 0 0 1 0 1
MIR5004, SYNGAP1 0 1 0 0 0 1
MIR9718, SIX1 0 1 0 0 0 1
MITF 1 0 0 0 0 1
MLC1 0 0 1 0 0 1
MLYCD 1 0 0 0 0 1
MMACHC 1 0 0 0 0 1
MOGS 0 0 1 0 0 1
MRAS 1 0 0 0 0 1
MRPS22 0 1 0 0 0 1
MSH6 1 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 1
MT-ND4 1 0 0 0 0 1
MT-TL1 1 0 0 0 0 1
MT-TL2 0 0 1 0 0 1
MTO1 0 0 1 0 0 1
MTRFR 0 0 1 0 0 1
MYBPC3 0 0 1 0 0 1
MYCN 0 0 1 0 0 1
MYH11 0 0 1 0 0 1
MYH2, MYHAS 0 0 1 0 0 1
MYLK2 0 0 0 1 0 1
MYO3A 0 0 0 1 0 1
MYO9A 0 0 1 0 0 1
MYPN 0 0 1 0 0 1
MYRF 1 0 0 0 0 1
MYSM1 1 0 0 0 0 1
NADSYN1 0 1 0 0 0 1
NAGA 1 0 0 0 0 1
NALCN 0 1 0 0 0 1
NCAPG2 0 1 0 0 0 1
NCDN 0 0 0 1 0 1
NDUFA11 0 0 1 0 0 1
NDUFAF1 0 0 1 0 0 1
NDUFAF5 0 0 1 0 0 1
NDUFAF8 0 1 0 0 0 1
NDUFB11 0 1 0 0 0 1
NDUFB3 1 0 0 0 0 1
NDUFS1 0 0 1 0 0 1
NDUFS4 0 1 0 0 0 1
NDUFS8 0 0 1 0 0 1
NDUFV1 0 0 1 0 0 1
NDUFV2 0 0 1 0 0 1
NEFH 0 0 1 0 0 1
NEU1 1 0 0 0 0 1
NEU1, SLC44A4 1 0 0 0 0 1
NF2 1 0 0 0 0 1
NFASC 0 0 1 0 0 1
NFE2L2 0 1 0 0 0 1
NHS 1 0 0 0 0 1
NIPA1 0 0 1 0 0 1
NIPAL4 1 0 0 0 0 1
NKIRAS1, RPL15 0 1 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 1
NLRP3 0 0 1 0 0 1
NOC3L, PLCE1 0 0 1 0 0 1
NONO 1 0 0 0 0 1
NPRL2 0 0 1 0 0 1
NPRL3 0 0 1 0 0 1
NR3C2 0 0 1 0 0 1
NRAP 0 1 0 0 0 1
NRROS 0 1 0 0 0 1
NT5E 0 1 0 0 0 1
NTNG2 0 0 1 0 0 1
NTRK2 0 0 1 0 0 1
NUBPL 0 0 1 0 0 1
OAT 0 0 1 0 0 1
ODC1 0 0 1 0 0 1
OGT 0 0 1 0 0 1
OPHN1 0 1 0 0 0 1
OTUD5 0 0 1 0 0 1
OTX2 1 0 0 0 0 1
PAK1 1 0 0 0 0 1
PAK3 0 0 1 0 0 1
PBX1 0 0 1 0 0 1
PCLO 0 0 1 0 0 1
PCNT 1 0 0 0 0 1
PCSK9 1 0 0 0 0 1
PCYT1A 0 1 0 0 0 1
PDGFB 0 0 1 0 0 1
PDGFRB 1 0 0 0 0 1
PDSS1 0 1 0 0 0 1
PDYN 0 0 1 0 0 1
PEX10 1 0 0 0 0 1
PEX11B 0 1 0 0 0 1
PEX16 0 0 1 0 0 1
PEX5 1 0 0 0 0 1
PEX7 1 0 0 0 0 1
PGAP2 0 0 1 0 0 1
PHEX 0 1 0 0 0 1
PHF21A 1 0 0 0 0 1
PHGDH 0 0 1 0 0 1
PHKA1 0 0 1 0 0 1
PHKA2 0 1 0 0 0 1
PHOX2B 1 0 0 0 0 1
PIGO 0 0 1 0 0 1
PIGV 0 0 1 0 0 1
PIK3R2 1 0 0 0 0 1
PINK1 0 0 1 0 0 1
PITX1 0 0 1 0 0 1
PLAA 0 1 0 0 0 1
PLOD3 0 0 1 0 0 1
PLP1, RAB9B 0 1 0 0 0 1
PLS3 0 0 1 0 0 1
PNP 0 1 0 0 0 1
PNPLA6 0 0 1 0 0 1
POC1A 0 0 1 0 0 1
POC1B 0 0 1 0 0 1
POLA1 0 0 1 0 0 1
POLD1 0 0 1 0 0 1
POLR1A 0 1 0 0 0 1
POLR1B 0 0 1 0 0 1
POLR1C 0 1 0 0 0 1
POLR2A 0 0 1 0 0 1
POMK 0 0 1 0 0 1
PORCN 1 0 0 0 0 1
PPIP5K2 0 0 1 0 0 1
PPM1D 1 0 0 0 0 1
PPP1R13L 1 0 0 0 0 1
PPP1R21 1 0 0 0 0 1
PPP2CA 1 0 0 0 0 1
PPP2R1A 0 1 0 0 0 1
PPP3CA 1 0 0 0 0 1
PQBP1 1 0 0 0 0 1
PRF1 1 0 0 0 0 1
PRKACB 1 0 0 0 0 1
PRKAR1A 1 0 0 0 0 1
PRKCG 0 0 1 0 0 1
PRKCSH 1 0 0 0 0 1
PRKDC 0 0 1 0 0 1
PROS1 1 0 0 0 0 1
PRPF8 0 1 0 0 0 1
PRPS1 0 0 1 0 0 1
PRX 0 0 1 0 0 1
PSTPIP1 1 0 0 0 0 1
PTF1A 0 1 0 0 0 1
PTPN4 1 0 0 0 0 1
PUS7 0 0 1 0 0 1
QARS1 0 0 1 0 0 1
RAC1 0 0 1 0 0 1
RAC3 0 0 1 0 0 1
RAD21 1 0 0 0 0 1
RAD51D, RAD51L3-RFFL 1 0 0 0 0 1
RARB 0 1 0 0 0 1
RB1 1 0 0 0 0 1
RBFOX2 0 0 1 0 0 1
REEP1 0 1 0 0 0 1
RFT1 0 0 1 0 0 1
RIC1 0 0 1 0 0 1
RIMS1 0 0 1 0 0 1
RLIM 0 0 1 0 0 1
RNASEH2A 0 1 0 0 0 1
RNASEH2B 1 0 0 0 0 1
RNF13 0 0 1 0 0 1
RNF213 1 0 0 0 0 1
RNF216 0 0 1 0 0 1
RORB 0 0 1 0 0 1
RPL3L 0 0 1 0 0 1
RPS6KA3 1 0 0 0 0 1
RRAS 0 0 1 0 0 1
RS1 1 0 0 0 0 1
RSPH4A 1 0 0 0 0 1
RXYLT1 0 0 1 0 0 1
RYR1 1 1 0 0 0 1
SAG 1 0 0 0 0 1
SASH3 0 0 1 0 0 1
SATB1 0 0 1 0 0 1
SCN1B 0 0 1 0 0 1
SCNN1A 1 0 0 0 0 1
SCO1 0 0 1 0 0 1
SCO2, TYMP 0 0 1 0 0 1
SDCCAG8 0 0 1 0 0 1
SDHAF1 1 0 0 0 0 1
SEC61A1 0 1 0 0 0 1
SETD1A 1 0 0 0 0 1
SFTPC 0 0 1 0 0 1
SGPL1 0 0 0 0 1 1
SH2B3 1 0 0 0 0 1
SH2D1A 1 0 0 0 0 1
SHANK3 0 0 1 0 0 1
SHOC2 1 0 0 0 0 1
SHROOM4 0 0 1 0 0 1
SIM1 1 0 0 0 0 1
SKIC2 1 0 0 0 0 1
SKIC3 0 0 1 0 0 1
SLC16A2 0 0 1 0 0 1
SLC18A2 0 0 1 0 0 1
SLC1A3 0 0 1 0 0 1
SLC22A5 1 0 0 0 0 1
SLC25A12 0 0 1 0 0 1
SLC25A13 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 1
SLC30A2 0 1 0 0 0 1
SLC34A1 0 1 0 0 0 1
SLC35A2 0 0 0 1 0 1
SLC3A1 1 0 0 0 0 1
SLC4A1 1 0 0 0 0 1
SLC52A3 0 1 0 0 0 1
SLC6A9 0 0 1 0 0 1
SMARCAL1 1 0 0 0 0 1
SMARCD1 0 0 0 1 0 1
SMC3 0 0 1 0 0 1
SMCHD1 0 0 1 0 0 1
SMN2 0 0 0 1 0 1
SMO 1 0 0 0 0 1
SMS 0 1 0 0 0 1
SNAP25 0 1 0 0 0 1
SNCA 0 0 1 0 0 1
SNRPB 1 0 0 0 0 1
SOX9 1 0 0 0 0 1
SPEG 0 0 1 0 0 1
SPG21 0 0 1 0 0 1
SPG7 1 0 0 0 0 1
SPINT2 0 1 0 0 0 1
SRD5A3 0 0 1 0 0 1
SRPX2 0 0 1 0 0 1
STAG2 0 0 1 0 0 1
STAT1 1 0 0 0 0 1
STRC 0 1 0 0 0 1
STX11 0 0 1 0 0 1
SUCLG1 0 0 1 0 0 1
SURF1 1 0 0 0 0 1
SUZ12 0 0 1 0 0 1
SYNE2 0 0 1 0 0 1
SYP 0 0 1 0 0 1
TAPBPL, VAMP1 0 0 1 0 0 1
TBC1D1 0 0 1 0 0 1
TBC1D32 1 0 0 0 0 1
TBCK 1 0 0 0 0 1
TBL1XR1 0 0 1 0 0 1
TBR1 1 0 0 0 0 1
TBX1 0 0 1 0 0 1
TBX19 0 1 0 0 0 1
TBX20 0 1 0 0 0 1
TCF12 0 0 1 0 0 1
TET2 0 0 1 0 0 1
TFAP2A 1 0 0 0 0 1
TFAP2B 0 0 1 0 0 1
TFR2 0 0 1 0 0 1
TGIF1 0 0 1 0 0 1
TGM5 1 0 0 0 0 1
TMEM106B 0 0 1 0 0 1
TMEM138 0 0 1 0 0 1
TMEM240 1 0 0 0 0 1
TMEM260 1 0 0 0 0 1
TMEM63A 0 0 1 0 0 1
TMPRSS3 1 0 0 0 0 1
TNC 0 0 1 0 0 1
TNFRSF1A 1 0 0 0 0 1
TNK2 0 0 1 0 0 1
TNNI2 1 0 0 0 0 1
TNPO3 0 0 1 0 0 1
TNS2 0 0 1 0 0 1
TOPORS 0 0 1 0 0 1
TPO 1 0 0 0 0 1
TPP2 0 0 1 0 0 1
TPRN 1 0 0 0 0 1
TRAPPC4 1 0 0 0 0 1
TRAPPC6B 0 1 0 0 0 1
TRIP11 1 0 0 0 0 1
TRPM4 0 0 1 0 0 1
TRPM6 1 0 0 0 0 1
TRPV4 0 0 1 0 0 1
TSEN54 0 0 0 0 1 1
TSPAN12 0 0 1 0 0 1
TSPEAR 1 0 0 0 0 1
TSPOAP1 0 0 1 0 0 1
TTC21B 0 0 1 0 0 1
TTI2 0 0 1 0 0 1
TTN 0 1 0 0 0 1
TTR 0 0 1 0 0 1
TUBB4A 0 1 0 0 0 1
TXNDC15 0 0 1 0 0 1
UBE2A 0 0 1 0 0 1
UBQLN2 0 0 1 0 0 1
UBR1 0 0 1 0 0 1
UCHL1 0 1 0 0 0 1
UGP2 1 0 0 0 0 1
UROS 1 0 0 0 0 1
USB1 0 1 0 0 0 1
USP27X 0 0 1 0 0 1
USP7 1 0 0 0 0 1
VAC14 0 1 0 0 0 1
VARS2 0 1 0 0 0 1
VCAN 0 0 1 0 0 1
VCP 0 0 1 0 0 1
VIM 0 0 1 0 0 1
VIPAS39 0 0 0 1 0 1
VLDLR 0 1 0 0 0 1
VPS37A 0 0 1 0 0 1
VWF 1 0 0 0 0 1
WAC 1 0 0 0 0 1
WARS2 0 0 1 0 0 1
WASF1 1 0 0 0 0 1
WDR26 0 1 0 0 0 1
WDR37 0 0 1 0 0 1
WDR4 0 0 1 0 0 1
WDR45 0 0 1 0 0 1
XDH 1 0 0 0 0 1
YWHAG 1 0 0 0 0 1
ZBTB24 0 1 0 0 0 1
ZMYND10 0 0 1 0 0 1
ZNF142 0 1 0 0 0 1
ZNF469 0 0 1 0 0 1
ZNF687 1 0 0 0 0 1
ZSWIM6 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 1659
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Polycystic kidney disease, adult type 70 10 56 5 0 141
Neurodevelopmental disorder 13 17 39 3 0 72
Polycystic kidney disease 4 19 9 18 0 0 46
Long QT syndrome 2 11 4 15 0 0 30
Kabuki syndrome 1 13 2 9 4 0 28
Hypertrophic cardiomyopathy 26 3 1 23 0 0 27
KBG syndrome 8 1 15 3 0 27
Marfan syndrome 13 6 5 1 0 25
Catecholaminergic polymorphic ventricular tachycardia 1 9 6 7 1 0 23
Noonan syndrome 1 17 2 3 0 0 22
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 10 0 6 4 0 20
X-linked Alport syndrome 12 8 0 0 0 20
Cardiomyopathy, familial hypertrophic 27 3 1 15 0 0 19
Neurofibromatosis, type 1 16 1 2 0 0 19
Usher syndrome type 2A 13 0 5 0 0 18
Wiedemann-Steiner syndrome 7 1 10 0 0 18
CHARGE association 7 2 8 0 0 17
Coffin-Siris syndrome 1 11 2 3 0 0 16
Polycystic kidney disease 2 12 0 4 0 0 16
Cardiomyopathy 2 1 10 2 0 15
Congenital contractural arachnodactyly 0 2 12 1 0 15
Cornelia de Lange syndrome 1 7 2 5 1 0 15
Hereditary spastic paraplegia 4 11 1 3 0 0 15
Renal cysts and diabetes syndrome 9 2 4 0 0 15
Severe early-childhood-onset retinal dystrophy 10 3 2 0 0 15
Telangiectasia, hereditary hemorrhagic, type 1 11 2 2 0 0 15
Intellectual disability-severe speech delay-mild dysmorphism syndrome 8 0 5 1 0 14
Osteogenesis imperfecta type I 12 0 2 0 0 14
Arrhythmogenic right ventricular dysplasia 9 6 2 4 1 0 13
Autosomal recessive nonsyndromic hearing loss 3 3 10 0 0 0 13
Developmental and epileptic encephalopathy, 7 9 1 3 0 0 13
Familial hypokalemia-hypomagnesemia 13 0 0 0 0 13
Intellectual disability, autosomal dominant 52 0 1 11 1 0 13
Microcephaly 5, primary, autosomal recessive 4 0 9 0 0 13
Sotos syndrome 9 2 2 0 0 13
Autosomal recessive nonsyndromic hearing loss 4 10 1 1 0 0 12
Autosomal recessive polycystic kidney disease 8 3 1 0 0 12
Benign familial hematuria 7 2 3 0 0 12
Developmental and epileptic encephalopathy, 4 9 1 0 2 0 12
Kleefstra syndrome 2 2 0 10 0 0 12
Niemann-Pick disease, type C1 4 1 7 0 0 12
Sifrim-Hitz-Weiss syndrome 2 3 7 0 0 12
Stickler syndrome type 1 9 1 2 0 0 12
Arrhythmogenic right ventricular dysplasia 5 0 0 11 0 0 11
Developmental and epileptic encephalopathy, 11 5 3 3 0 0 11
Developmental delay with or without dysmorphic facies and autism 0 1 10 0 0 11
Hereditary spastic paraplegia 11 2 2 7 0 0 11
Intellectual disability, X-linked syndromic, Turner type 0 1 10 0 0 11
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 4 2 5 0 0 11
Nemaline myopathy 2 3 2 6 0 0 11
Vanishing white matter disease 7 1 3 0 0 11
Ataxia-telangiectasia syndrome 8 0 2 0 0 10
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 9 0 0 1 0 10
Autosomal recessive nonsyndromic hearing loss 1A 9 0 1 0 0 10
COL4A1 or COL4A2-related cerebral small vessel disease 1 2 7 0 0 10
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2 2 6 0 0 10
Long qt syndrome 8 1 0 9 0 0 10
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2 6 2 0 0 10
Phenylketonuria 10 0 0 0 0 10
Primary dilated cardiomyopathy 0 1 8 1 0 10
Tuberous sclerosis 2 6 0 3 1 0 10
Tyrosinase-positive oculocutaneous albinism 4 4 2 0 0 10
Wilson disease 5 2 3 0 0 10
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 5 1 3 0 0 9
Alexander disease 5 0 3 1 0 9
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 8 1 0 0 0 9
Cardiomyopathy, familial hypertrophic, 28 0 0 9 0 0 9
Developmental and epileptic encephalopathy, 42 2 1 6 0 0 9
Finnish congenital nephrotic syndrome 4 1 4 0 0 9
Intellectual developmental disorder with dysmorphic facies and ptosis 2 0 7 0 0 9
Intellectual disability, X-linked 1 3 0 5 1 0 9
Intellectual disability, autosomal dominant 45 1 1 4 3 0 9
Intellectual disability, autosomal dominant 5 3 4 2 0 0 9
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 1 7 0 0 9
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 1 7 1 0 9
Pendred syndrome 9 0 0 0 0 9
Pyruvate dehydrogenase E1-alpha deficiency 3 3 3 0 0 9
Rubinstein-Taybi syndrome due to CREBBP mutations 3 0 4 2 0 9
Snijders Blok-Campeau syndrome 2 2 5 0 0 9
ZTTK syndrome 4 1 3 1 0 9
8q24.3 microdeletion syndrome 5 2 1 0 0 8
Capillary malformation-arteriovenous malformation 2 5 0 3 0 0 8
Dent disease type 1 5 0 3 0 0 8
Dihydropyrimidine dehydrogenase deficiency 5 0 3 0 0 8
Dilated cardiomyopathy 1D 1 2 4 1 0 8
Dilated cardiomyopathy 1DD 1 0 6 1 0 8
Duchenne muscular dystrophy 6 0 2 0 0 8
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 0 8 0 0 8
Epilepsy, familial focal, with variable foci 1 4 0 4 0 0 8
Generalized epilepsy with febrile seizures plus, type 2 4 1 3 0 0 8
Hereditary factor VIII deficiency disease 3 0 5 0 0 8
Hereditary spastic paraplegia 15 2 0 6 0 0 8
Hypertrophic cardiomyopathy 0 0 7 1 0 8
Hypertrophic cardiomyopathy 2 2 1 5 0 0 8
Intellectual developmental disorder, autosomal dominant 64 3 0 4 1 0 8
Intellectual disability, autosomal recessive 53 3 1 4 0 0 8
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 5 1 2 0 0 8
Kabuki syndrome 2 3 0 5 0 0 8
Loeys-Dietz syndrome 1 1 3 4 0 0 8
Luscan-Lumish syndrome 1 1 5 1 0 8
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 0 5 2 0 8
Nicolaides-Baraitser syndrome 4 1 3 0 0 8
PMM2-congenital disorder of glycosylation 6 2 0 0 0 8
Pitt-Hopkins syndrome 2 2 3 1 0 8
Severe intellectual disability-progressive spastic diplegia syndrome 4 1 3 0 0 8
Telangiectasia, hereditary hemorrhagic, type 2 7 1 0 0 0 8
Alstrom syndrome 2 0 5 0 0 7
Androgen resistance syndrome 5 2 0 0 0 7
Asphyxiating thoracic dystrophy 3 1 4 2 0 0 7
Autosomal dominant Alport syndrome 3 2 2 0 0 7
Autosomal recessive nonsyndromic hearing loss 9 1 0 6 0 0 7
Cohen syndrome 4 0 3 0 0 7
Developmental and epileptic encephalopathy, 9 3 1 3 0 0 7
Ehlers-Danlos syndrome, classic type, 1 0 1 6 0 0 7
Hypertrophic cardiomyopathy 1 2 2 1 2 0 7
Intellectual developmental disorder with autism and macrocephaly 4 0 3 0 0 7
Intellectual developmental disorder with seizures and language delay 0 0 6 1 0 7
Intellectual disability, autosomal dominant 39 2 0 4 1 0 7
Joubert syndrome 9 5 1 1 0 0 7
Kleefstra syndrome 1 1 1 5 0 0 7
Menkes kinky-hair syndrome 2 1 4 0 0 7
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 1 0 5 1 0 7
Neurodevelopmental disorder with or without early-onset generalized epilepsy 1 0 6 0 0 7
Noonan syndrome 4 3 0 2 2 0 7
PTEN hamartoma tumor syndrome 7 0 0 0 0 7
Tatton-Brown-Rahman overgrowth syndrome 3 0 4 0 0 7
Tay-Sachs disease 6 1 0 0 0 7
Acyl-CoA dehydrogenase 9 deficiency 4 2 0 0 0 6
Aneurysm-osteoarthritis syndrome 1 3 2 0 0 6
Atrial septal defect 3 0 0 6 0 0 6
Autosomal recessive nonsyndromic hearing loss 18B 2 1 3 0 0 6
Bosch-Boonstra-Schaaf optic atrophy syndrome 3 1 2 0 0 6
Chromosome 1p32-p31 deletion syndrome 1 0 4 1 0 6
Cone-rod dystrophy 3 4 1 0 1 0 6
Cowden syndrome 1 5 0 1 0 0 6
Developmental and epileptic encephalopathy 94 1 2 3 0 0 6
Dilated cardiomyopathy 1HH 1 2 2 1 0 6
Episodic ataxia type 2 3 0 3 0 0 6
Fabry disease 3 0 2 1 0 6
Familial juvenile hyperuricemic nephropathy type 1 1 3 2 0 0 6
Glycogen storage disease, type II 4 1 1 0 0 6
Gorlin syndrome 1 1 4 0 0 6
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 5 0 1 0 0 6
Hypoparathyroidism, deafness, renal disease syndrome 6 0 0 0 0 6
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2 1 2 1 0 6
Joubert syndrome 17 5 0 1 0 0 6
Lissencephaly due to TUBA1A mutation 3 2 1 0 0 6
Microcephalic primordial dwarfism due to RTTN deficiency 0 0 6 0 0 6
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 3 0 3 0 0 6
Microcephaly and chorioretinopathy 1 1 0 5 0 0 6
Multiple acyl-CoA dehydrogenase deficiency 4 2 0 0 0 6
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1 0 5 0 0 6
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 4 1 1 6
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 5 0 0 6
Noonan syndrome 10 0 2 4 0 0 6
Noonan syndrome 5 2 0 2 2 0 6
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 0 6 0 0 6
Primary ciliary dyskinesia 7 2 1 3 0 0 6
Smith-Lemli-Opitz syndrome 5 0 1 0 0 6
Stargardt disease 0 1 5 0 0 6
Syndromic X-linked intellectual disability Claes-Jensen type 1 1 4 0 0 6
3-Methylglutaconic aciduria type 2 3 0 2 0 0 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 4 0 1 0 0 5
Alagille syndrome due to a JAG1 point mutation 3 1 0 1 0 5
Alkuraya-Kucinskas syndrome 0 0 4 1 0 5
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 0 4 0 0 5
Autism spectrum disorder due to AUTS2 deficiency 1 0 4 0 0 5
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 5 0 0 5
Autosomal recessive nonsyndromic hearing loss 77 1 2 2 0 0 5
Bartter disease type 2 1 2 2 0 0 5
Blepharophimosis - intellectual disability syndrome, SBBYS type 5 0 0 0 0 5
Bohring-Opitz syndrome 1 0 4 0 0 5
Capillary malformation-arteriovenous malformation 1 4 1 0 0 0 5
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 4 0 0 5
Choroideremia 4 0 1 0 0 5
Clark-Baraitser syndrome 2 1 2 0 0 5
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 4 1 0 0 0 5
Combined oxidative phosphorylation defect type 13 3 2 0 0 0 5
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 4 0 0 5
Congenital hyperammonemia, type I 1 0 4 0 0 5
DYRK1A-related intellectual disability syndrome 2 0 3 0 0 5
Developmental and epileptic encephalopathy, 13 0 2 3 0 0 5
Developmental and epileptic encephalopathy, 2 3 1 0 1 0 5
Developmental and epileptic encephalopathy, 26 3 0 2 0 0 5
Developmental and epileptic encephalopathy, 5 1 0 3 1 0 5
Developmental and epileptic encephalopathy, 69 0 0 5 0 0 5
Developmental delay with variable intellectual impairment and behavioral abnormalities 2 0 3 0 0 5
Dilated cardiomyopathy 1AA 0 0 5 0 0 5
Galactosylceramide beta-galactosidase deficiency 3 0 2 0 0 5
Gastrointestinal defects and immunodeficiency syndrome 1 3 1 1 0 0 5
Hypercholesterolemia, familial, 1 4 0 0 1 0 5
Hypertrophic cardiomyopathy 3 2 1 2 0 0 5
Imerslund-Grasbeck syndrome type 1 2 1 2 0 0 5
Infantile GM1 gangliosidosis 3 1 1 0 0 5
Intellectual developmental disorder 62 2 1 2 0 0 5
Intellectual disability, autosomal recessive 13 1 0 4 0 0 5
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 3 0 2 0 0 5
Leigh syndrome 1 3 1 0 0 5
Macrocephaly, acquired, with impaired intellectual development 1 1 3 0 0 5
Mandibulofacial dysostosis-microcephaly syndrome 1 2 2 0 0 5
Metachromatic leukodystrophy 4 0 0 1 0 5
Nephrotic syndrome, type 2 0 2 3 0 0 5
Non-ketotic hyperglycinemia 3 2 0 0 0 5
Noonan syndrome 8 5 0 0 0 0 5
Pontocerebellar hypoplasia type 6 1 1 3 0 0 5
Primary ciliary dyskinesia 3 4 0 1 0 0 5
Recessive dystrophic epidermolysis bullosa 4 1 0 0 0 5
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 1 3 0 0 5
Severe X-linked myotubular myopathy 4 1 0 0 0 5
Shukla-Vernon syndrome 0 0 5 0 0 5
Sudden cardiac failure, infantile 2 1 2 0 0 5
Timothy syndrome 0 0 4 1 0 5
Treacher Collins syndrome 1 4 0 1 0 0 5
Very long chain acyl-CoA dehydrogenase deficiency 3 1 1 0 0 5
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 3 1 0 0 4
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 4 0 0 4
Achromatopsia 3 3 1 0 0 0 4
Adrenoleukodystrophy 2 1 1 0 0 4
Alagille syndrome due to a NOTCH2 point mutation 1 0 3 0 0 4
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 3 1 0 0 4
Autosomal recessive inherited pseudoxanthoma elasticum 1 1 1 1 0 4
Autosomal recessive nonsyndromic hearing loss 12 1 1 2 0 0 4
Baraitser-Winter syndrome 1 2 2 0 0 0 4
Bardet-Biedl syndrome 2 3 0 1 0 0 4
Bifunctional peroxisomal enzyme deficiency 2 2 0 0 0 4
CEBALID syndrome 1 1 2 0 0 4
Catecholaminergic polymorphic ventricular tachycardia 3 0 2 2 0 0 4
Cerebellar atrophy, visual impairment, and psychomotor retardation; 1 0 3 0 0 4
Charlevoix-Saguenay spastic ataxia 3 0 1 0 0 4
Classic homocystinuria 1 0 3 0 0 4
Coffin-Siris syndrome 6 3 0 1 0 0 4
Congenital muscular hypertrophy-cerebral syndrome 1 2 0 1 0 4
Costello syndrome 4 0 0 0 0 4
Deficiency of aromatic-L-amino-acid decarboxylase 1 3 0 0 0 4
Developmental and epileptic encephalopathy, 14 3 0 1 0 0 4
Developmental and epileptic encephalopathy, 18 1 0 3 0 0 4
Developmental and epileptic encephalopathy, 6 2 0 2 0 0 4
Dilated cardiomyopathy 1W 0 0 4 0 0 4
Ehlers-Danlos syndrome, classic type, 2 1 1 2 0 0 4
Epilepsy, early-onset, vitamin B6-dependent 3 0 1 0 0 4
Focal segmental glomerulosclerosis 5 1 0 2 1 0 4
GM1 gangliosidosis 3 0 1 0 0 4
Glutamate pyruvate transaminase 2 deficiency 0 0 4 0 0 4
Glycogen storage disease, type V 2 0 2 0 0 4
Glycogen storage disorder due to hepatic glycogen synthase deficiency 3 0 1 0 0 4
Hearing loss, autosomal recessive 57 1 0 3 0 0 4
Hereditary spastic paraplegia 48 0 0 4 0 0 4
Heterotaxy, visceral, 1, X-linked 0 1 2 1 0 4
Holt-Oram syndrome 1 0 3 0 0 4
Hypertrophic cardiomyopathy 17 0 0 4 0 0 4
Idiopathic basal ganglia calcification 1 2 0 2 0 0 4
Infantile liver failure syndrome 2 2 1 1 0 0 4
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2 0 2 0 0 4
Intellectual disability, autosomal dominant 1 0 0 4 0 0 4
Intellectual disability, autosomal dominant 13 0 1 2 1 0 4
Intellectual disability, autosomal dominant 14 1 0 2 1 0 4
Intellectual disability, autosomal dominant 16 1 0 3 0 0 4
Intellectual disability, autosomal dominant 22 0 1 2 1 0 4
Intellectual disability, autosomal dominant 42 3 1 0 0 0 4
Intellectual disability, autosomal dominant 43 0 0 4 0 0 4
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 3 0 0 1 0 4
Joubert syndrome 3 1 0 3 0 0 4
Karyomegalic interstitial nephritis 2 1 1 0 0 4
Loeys-Dietz syndrome 4 3 0 1 0 0 4
Macrocephaly-autism syndrome 2 0 2 0 0 4
Medium-chain acyl-coenzyme A dehydrogenase deficiency 2 0 1 1 0 4
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 3 1 0 4
Microcephaly 1, primary, autosomal recessive 0 0 4 0 0 4
Microcephaly 18, primary, autosomal dominant 0 0 4 0 0 4
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2 1 1 0 0 4
Mitochondrial DNA depletion syndrome 1 0 1 3 0 0 4
Mucopolysaccharidosis, MPS-III-A 0 1 3 0 0 4
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 4 0 0 4
Myoclonic-astatic epilepsy 3 1 0 0 0 4
Netherton syndrome 4 0 0 0 0 4
Neuronal ceroid lipofuscinosis 2 4 0 0 0 0 4
Neuronal ceroid lipofuscinosis 7 2 1 1 0 0 4
O'Donnell-Luria-Rodan syndrome 2 0 1 1 0 4
Ornithine carbamoyltransferase deficiency 2 1 1 0 0 4
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 4 0 0 0 0 4
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 4 0 0 0 0 4
Peroxisome biogenesis disorder due to PEX1 defect 2 0 2 0 0 4
Pilarowski-Bjornsson syndrome 0 0 4 0 0 4
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 1 3 0 0 4
Pulmonary hypertension, primary, 1 1 0 3 0 0 4
Pyridoxine-dependent epilepsy 3 1 0 0 0 4
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 3 0 0 1 0 4
Rothmund-Thomson syndrome type 2 1 0 2 0 1 4
SATB2 associated disorder 4 0 0 0 0 4
Severe myoclonic epilepsy in infancy 3 1 0 0 0 4
Spinal muscular atrophy 3 1 0 0 0 4
Syndromic disease 0 0 3 1 0 4
TARP syndrome 2 1 0 1 0 4
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 3 1 0 0 4
Tuberous sclerosis 1 2 0 2 0 0 4
Usher syndrome type 1D 3 1 0 0 0 4
Warsaw breakage syndrome 1 0 3 0 0 4
Wilson-Turner syndrome 0 0 4 0 0 4
X-linked intellectual disability Cabezas type 0 0 4 0 0 4
46,XY sex reversal 3 2 1 0 0 0 3
ALG1-congenital disorder of glycosylation 3 0 0 0 0 3
ALG3-congenital disorder of glycosylation 1 1 1 0 0 3
Aicardi-Goutieres syndrome 3 1 1 1 0 0 3
Alpha-1-antitrypsin deficiency 3 0 0 0 0 3
Alport syndrome 1 2 0 0 0 3
Andersen Tawil syndrome 2 0 1 0 0 3
Auditory neuropathy-optic atrophy syndrome 0 1 2 0 0 3
Autosomal dominant Kenny-Caffey syndrome 1 0 1 0 1 3
Autosomal dominant Robinow syndrome 2 0 0 2 1 0 3
Autosomal dominant ichthyosis vulgaris 2 0 1 0 0 3
Autosomal recessive distal spinal muscular atrophy 1 3 0 0 0 0 3
Autosomal recessive juvenile Parkinson disease 2 2 0 1 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 2 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2I 2 1 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 2 0 0 3 0 0 3
Autosomal recessive spinocerebellar ataxia 10 1 2 0 0 0 3
Bardet-Biedl syndrome 10 1 2 0 0 0 3
Bartter disease type 1 2 0 1 0 0 3
Basal ganglia calcification, idiopathic, 7, autosomal recessive 0 2 1 0 0 3
Brown-Vialetto-van Laere syndrome 2 2 0 1 0 0 3
CEP290-related ciliopathy 2 0 1 0 0 3
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 0 3 0 0 0 3
Catecholaminergic polymorphic ventricular tachycardia 5 0 0 3 0 0 3
Cerebral cavernous malformation 2 0 1 0 0 3
Cerebrooculofacioskeletal syndrome 3 1 0 2 0 0 3
Childhood apraxia of speech 2 0 1 0 0 3
Citrullinemia type I 3 0 0 0 0 3
Combined oxidative phosphorylation defect type 23 0 0 3 0 0 3
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2 0 0 0 1 3
Congenital adrenal hypoplasia, X-linked 1 1 0 1 0 3
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 1 2 0 0 3
Congenital dyserythropoietic anemia, type II 3 0 0 0 0 3
Congenital myasthenic syndrome 11 2 1 0 0 0 3
Currarino triad 2 0 1 0 0 3
Danon disease 1 0 1 1 0 3
Deficiency of butyrylcholinesterase 1 2 0 0 0 3
Developmental and epileptic encephalopathy, 28 2 0 1 0 0 3
Developmental and epileptic encephalopathy, 43 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 50 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 54 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 62 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 64 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 67 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 75 1 1 1 0 0 3
Diabetes insipidus, nephrogenic, X-linked 2 1 0 0 0 3
Dilated cardiomyopathy 1C 0 0 2 1 0 3
Dilated cardiomyopathy 1JJ 0 0 3 0 0 3
Dilated cardiomyopathy 3B 0 0 3 0 0 3
Distal arthrogryposis type 5D 0 3 0 0 0 3
Duchenne and Becker muscular dystrophy 0 0 3 0 0 3
Early infantile epileptic encephalopathy with suppression bursts 0 1 2 0 0 3
Ehlers-Danlos syndrome due to tenascin-X deficiency 1 0 2 0 0 3
Epilepsy, familial focal, with variable foci 3 1 0 1 1 0 3
Epileptic encephalopathy, infantile or early childhood, 2 0 0 3 0 0 3
Familial X-linked hypophosphatemic vitamin D refractory rickets 2 1 0 0 0 3
Fanconi anemia complementation group A 2 0 1 0 0 3
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2 1 0 0 0 3
Feingold syndrome type 1 1 0 2 0 0 3
Floating-Harbor syndrome 2 0 1 0 0 3
Gaucher disease 3 0 0 0 0 3
Gaucher disease type I 3 0 0 0 0 3
Gaze palsy, familial horizontal, with progressive scoliosis 1 2 0 1 0 0 3
Glomerulopathy with fibronectin deposits 2 1 0 1 1 0 3
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 3 0 0 3
Glycogen storage disease type III 2 0 1 0 0 3
Greig cephalopolysyndactyly syndrome 0 1 2 0 0 3
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 0 3 0 0 3
Hajdu-Cheney syndrome 1 0 2 0 0 3
Hereditary fructosuria 2 1 0 0 0 3
Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 2 1 0 3
Hereditary spastic paraplegia 3A 0 3 0 0 0 3
Hypertrichotic osteochondrodysplasia Cantu type 1 1 1 0 0 3
Hypertrophic cardiomyopathy 14 0 0 2 1 0 3
Hypogonadotropic hypogonadism 7 with or without anosmia 3 0 0 0 0 3
Hypomyelinating leukodystrophy 9 0 1 2 0 0 3
Hypotonia, ataxia, and delayed development syndrome 1 1 1 0 0 3
Immunodeficiency, common variable, 12 1 1 1 0 0 3
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 3 0 0 3
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 1 1 0 0 3
Intellectual disability, X-linked 102 2 1 0 0 0 3
Intellectual disability, X-linked 90 0 0 3 0 0 3
Intellectual disability, X-linked, syndromic 33 0 0 3 0 0 3
Intellectual disability, autosomal dominant 20 2 1 0 0 0 3
Intellectual disability, autosomal dominant 29 2 0 0 1 0 3
Intellectual disability, autosomal dominant 38 1 1 0 1 0 3
Intellectual disability, autosomal dominant 41 0 1 2 0 0 3
Intellectual disability, autosomal dominant 47 0 0 1 2 0 3
Intellectual disability, autosomal dominant 54 0 1 2 0 0 3
Intellectual disability, autosomal dominant 56 0 1 2 0 0 3
Intellectual disability, autosomal dominant 57 2 0 0 1 0 3
Intellectual disability, autosomal recessive 44 2 1 0 0 0 3
Intellectual disability, autosomal recessive 47 0 0 1 2 0 3
Interstitial lung disease due to ABCA3 deficiency 1 0 2 0 0 3
Joubert syndrome 18 0 0 3 0 0 3
Joubert syndrome 23 2 0 1 0 0 3
Joubert syndrome 38 2 1 0 0 0 3
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 0 2 0 0 3
Koolen-de Vries syndrome 2 0 0 1 0 3
LAMA2-related muscular dystrophy 1 1 1 0 0 3
Landau-Kleffner syndrome 2 0 1 0 0 3
Left ventricular noncompaction 8 0 1 2 0 0 3
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 0 2 0 0 3
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 1 1 1 0 0 3
Loeys-Dietz syndrome 2 0 1 2 0 0 3
Long QT syndrome 1 2 0 1 0 0 3
Long QT syndrome 6 0 0 3 0 0 3
Lowe syndrome 3 0 0 0 0 3
Lysosomal acid lipase deficiency 1 2 0 0 0 3
MED12-related intellectual disability syndrome 1 0 2 0 0 3
Macrocephaly-developmental delay syndrome 1 0 2 0 0 3
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1 1 1 0 0 3
Megalencephaly-capillary malformation-polymicrogyria syndrome 2 0 1 0 0 3
Methylmalonic acidemia with homocystinuria, type cblX 0 0 3 0 0 3
Microcephaly, growth restriction, and increased sister chromatid exchange 2 0 0 3 0 0 3
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2 0 1 0 0 3
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 0 3 0 0 3
Microphthalmia, isolated, with coloboma 9 1 0 2 0 0 3
Mitochondrial DNA depletion syndrome 13 2 1 0 0 0 3
Mitochondrial complex 1 deficiency, nuclear type 19 1 1 1 0 0 3
Mitochondrial complex 1 deficiency, nuclear type 26 0 1 2 0 0 3
Mitochondrial complex III deficiency nuclear type 1 2 1 0 0 0 3
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 0 3 0 0 3
Monosomy 7 myelodysplasia and leukemia syndrome 2 0 0 3 0 0 3
Mowat-Wilson syndrome 0 1 2 0 0 3
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 3 0 0 3
Multiple mitochondrial dysfunctions syndrome 6 0 0 3 0 0 3
Neonatal-onset encephalopathy with rigidity and seizures 1 0 2 0 0 3
Nephronophthisis 3 2 1 0 0 0 3
Nephrotic syndrome 0 0 3 0 0 3
Nephrotic syndrome, type 3 0 0 3 0 0 3
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 1 2 0 0 3
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 1 0 2 0 0 3
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 0 3 0 0 3
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 1 0 2 0 0 3
Neurodevelopmental disorder with or without autism or seizures 1 1 1 0 0 3
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 1 1 0 0 3
Neuronal ceroid lipofuscinosis 1 3 0 0 0 0 3
Noonan syndrome 9 0 0 3 0 0 3
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 1 1 0 0 3
Polycystic kidney disease 3 with or without polycystic liver disease 0 0 3 0 0 3
Polycystic liver disease 2 3 0 0 0 0 3
Pontocerebellar hypoplasia type 1B 1 2 0 0 0 3
Primary hyperoxaluria, type I 2 1 0 0 0 3
Progressive sclerosing poliodystrophy 2 0 1 0 0 3
Propionic acidemia 2 1 0 0 0 3
Radio-Tartaglia syndrome 1 0 1 1 0 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 0 3 0 0 3
Renal tubular acidosis with progressive nerve deafness 3 0 0 0 0 3
Retinitis pigmentosa 25 3 0 0 0 0 3
Retinitis pigmentosa 43 1 0 2 0 0 3
Rett syndrome 2 1 0 0 0 3
Ritscher-Schinzel syndrome 2 0 0 2 1 0 3
SIN3A-related intellectual disability syndrome 1 1 1 0 0 3
Schinzel-Giedion syndrome 2 0 1 0 0 3
Schwannomatosis 2 1 2 0 0 0 3
Seizures, benign familial infantile, 2 1 2 0 0 0 3
Short-rib thoracic dysplasia 10 with or without polydactyly 1 1 1 0 0 3
Smith-Magenis syndrome 1 0 2 0 0 3
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1 0 2 0 0 3
Spinocerebellar ataxia type 19/22 0 3 0 0 0 3
Stickler syndrome, type 4 0 0 3 0 0 3
Syndromic X-linked intellectual disability Siderius type 0 0 3 0 0 3
Testicular anomalies with or without congenital heart disease 0 0 2 1 0 3
Trichorhinophalangeal dysplasia type I 2 0 1 0 0 3
Type 2 collagenopathy 3 0 0 0 0 3
Tyrosinase-negative oculocutaneous albinism 3 0 0 0 0 3
Usher syndrome type 1C 2 0 1 0 0 3
Van Maldergem syndrome 2 0 0 3 0 0 3
Variegate porphyria 1 0 2 0 0 3
Vasculitis due to ADA2 deficiency 3 0 0 0 0 3
Vissers-Bodmer syndrome 0 0 3 0 0 3
Weiss-kruszka syndrome 0 0 3 0 0 3
Wieacker-Wolff syndrome 1 0 2 0 0 3
X-linked agammaglobulinemia 2 0 1 0 0 3
not specified 0 0 3 0 0 3
46,XY sex reversal 6 0 0 1 0 1 2
AP-4 deficiency syndrome 0 1 1 0 0 2
Aarskog syndrome 1 0 1 0 0 2
Achromatopsia 2 2 0 0 0 0 2
Adams-Oliver syndrome 1 0 0 2 0 0 2
Adams-Oliver syndrome 5 0 1 1 0 0 2
Aicardi-Goutieres syndrome 1 2 0 0 0 0 2
Aicardi-Goutieres syndrome 4 1 1 0 0 0 2
Aicardi-Goutieres syndrome 5 0 1 1 0 0 2
Alazami-Yuan syndrome 1 0 1 0 0 2
Alopecia-intellectual disability syndrome 4 1 1 0 0 0 2
Alpha-N-acetylgalactosaminidase deficiency 1 0 1 0 0 2
Alzheimer disease 3 1 0 1 0 0 2
Amyotrophic lateral sclerosis type 16 1 1 0 0 0 2
Amyotrophic lateral sclerosis type 18 0 1 0 1 0 2
Anemia, congenital dyserythropoietic, type 1a 0 0 2 0 0 2
Aniridia 1 1 1 0 0 0 2
Anterior segment dysgenesis 0 1 1 0 0 2
Aortic aneurysm, familial thoracic 12 0 0 2 0 0 2
Aortic aneurysm, familial thoracic 6 1 0 1 0 0 2
Aortic aneurysm, familial thoracic 7 0 0 2 0 0 2
Aortic valve disease 3 0 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 13 0 0 2 0 0 2
Arterial calcification, generalized, of infancy, 1 0 2 0 0 0 2
Atrial conduction disease 1 0 1 0 0 2
Atrial septal defect 6 0 0 2 0 0 2
Atrial septal defect 7 1 0 1 0 0 2
Atrophia bulborum hereditaria 1 1 0 0 0 2
Atypical hemolytic-uremic syndrome with I factor anomaly 2 0 0 0 0 2
Au-Kline syndrome 1 1 0 0 0 2
Autism, susceptibility to, 17 1 0 1 0 0 2
Autosomal dominant Parkinson disease 8 0 0 2 0 0 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 1 0 1 0 0 2
Autosomal dominant nonsyndromic hearing loss 12 0 1 1 0 0 2
Autosomal dominant nonsyndromic hearing loss 15 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 2A 0 1 1 0 0 2
Autosomal recessive DOPA responsive dystonia 2 0 0 0 0 2
Autosomal recessive congenital ichthyosis 1 2 0 0 0 0 2
Autosomal recessive congenital ichthyosis 3 1 0 1 0 0 2
Autosomal recessive congenital ichthyosis 4A 1 0 1 0 0 2
Autosomal recessive early-onset Parkinson disease 23 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 22 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 28 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 63 1 0 1 0 0 2
Band heterotopia of brain 0 0 2 0 0 2
Bardet-Biedl syndrome 7 1 0 1 0 0 2
Bardet-Biedl syndrome 9 0 1 1 0 0 2
Basilicata-Akhtar syndrome 1 0 0 1 0 2
Beta-D-mannosidosis 0 2 0 0 0 2
Bilateral frontoparietal polymicrogyria 1 0 1 0 0 2
Biotin-responsive basal ganglia disease 1 1 0 0 0 2
Biotinidase deficiency 1 0 1 0 0 2
Birt-Hogg-Dube syndrome 2 0 0 0 0 2
Blepharophimosis, ptosis, and epicanthus inversus syndrome 2 0 0 0 0 2
Bone marrow failure syndrome 3 1 1 0 0 0 2
Brain small vessel disease 1 with or without ocular anomalies 1 0 1 0 0 2
Branchiootorenal syndrome 1 2 0 0 0 0 2
Brown-Vialetto-van Laere syndrome 1 1 1 0 0 0 2
Brugada syndrome 1 1 0 1 0 0 2
Brugada syndrome 4 0 0 2 0 0 2
CBL-related disorder 1 0 1 0 0 2
COG8-congenital disorder of glycosylation 0 0 2 0 0 2
Camptomelic dysplasia 2 0 0 0 0 2
Cardiac arrhythmia, ankyrin-B-related 0 0 2 0 0 2
Cardiac, facial, and digital anomalies with developmental delay 1 0 1 0 0 2
Cardiofaciocutaneous syndrome 1 1 0 1 0 0 2
Carnitine palmitoyl transferase II deficiency, myopathic form 2 0 0 0 0 2
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 1 0 2
Cerebral amyloid angiopathy, APP-related 1 1 0 0 0 2
Cerebral cavernous malformation 1 2 0 0 0 0 2
Cerebroretinal microangiopathy with calcifications and cysts 1 0 0 2 0 0 2
Charcot-Marie-Tooth disease X-linked dominant 1 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 4B3 0 1 1 0 0 2
Charcot-marie-tooth disease, axonal, type 2DD 1 0 1 0 0 2
Cholestanol storage disease 1 0 1 0 0 2
Cholestasis, progressive familial intrahepatic, 4 1 0 1 0 0 2
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 0 2 0 0 2
Chromosome 2q32-q33 deletion syndrome 1 0 1 0 0 2
Ciliary dyskinesia, primary, 40 0 0 2 0 0 2
Cleidocranial dysostosis 2 0 0 0 0 2
Cockayne syndrome type 2 1 1 0 0 0 2
Coffin-Siris syndrome 11 0 0 1 1 0 2
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 2 0 0 2
Cognitive impairment with or without cerebellar ataxia 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 17 0 0 1 1 0 2
Combined oxidative phosphorylation defect type 20 1 1 0 0 0 2
Combined oxidative phosphorylation defect type 21 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 8 2 0 0 0 0 2
Complex cortical dysplasia with other brain malformations 1 2 0 0 0 0 2
Complex cortical dysplasia with other brain malformations 2 0 0 2 0 0 2
Complex cortical dysplasia with other brain malformations 6 0 1 1 0 0 2
Complex neurodevelopmental disorder 2 0 0 0 0 2
Cone-rod dystrophy 13 0 0 2 0 0 2
Cone-rod dystrophy 5 0 0 1 1 0 2
Congenital amegakaryocytic thrombocytopenia 1 1 0 0 0 2
Congenital disorder of deglycosylation 1 0 2 0 0 0 2
Congenital disorder of deglycosylation 2 0 1 1 0 0 2
Congenital generalized lipodystrophy type 1 1 1 0 0 0 2
Congenital heart defects and ectodermal dysplasia 0 0 2 0 0 2
Congenital heart defects, multiple types, 4 0 1 1 0 0 2
Congenital heart defects, multiple types, 6 1 1 0 0 0 2
Congenital heart defects, multiple types, 7 1 0 1 0 0 2
Congenital heart disease 0 0 1 1 0 2
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 1 1 0 0 0 2
Congenital long QT syndrome 1 0 1 0 0 2
Congenital microvillous atrophy 1 1 0 0 0 2
Congenital myasthenic syndrome 19 1 0 1 0 0 2
Congenital myasthenic syndrome 5 2 0 0 0 0 2
Congenital nonprogressive myopathy with Moebius and Robin sequences 1 1 0 0 0 2
Cornelia de Lange syndrome 5 1 1 0 0 0 2
Cortical dysplasia, complex, with other brain malformations 10 0 0 2 0 0 2
Cortical dysplasia-focal epilepsy syndrome 1 0 1 0 0 2
Cutis laxa, autosomal dominant 1 0 0 2 0 0 2
Cutis laxa, autosomal recessive, type 1B 0 0 2 0 0 2
Cystic fibrosis 2 0 0 0 0 2
Cytochrome-c oxidase deficiency disease 1 0 1 0 0 2
D-2-hydroxyglutaric aciduria 1 1 1 0 0 0 2
De Lange syndrome 0 0 2 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2 0 0 0 0 2
Deficiency of alpha-mannosidase 2 0 0 0 0 2
Deficiency of butyryl-CoA dehydrogenase 1 0 0 1 0 2
Developmental and epileptic encephalopathy, 17 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 23 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 44 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 57 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 72 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 74 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 84 1 0 1 0 0 2
Developmental delay with autism spectrum disorder and gait instability 0 0 2 0 0 2
Developmental delay with variable neurologic and brain abnormalities 0 1 0 1 0 2
Developmental delay, impaired speech, and behavioral abnormalities 0 1 0 1 0 2
Developmental malformations-deafness-dystonia syndrome 1 1 0 0 0 2
Diamond-Blackfan anemia 6 0 0 2 0 0 2
Dias-Logan syndrome 0 0 2 0 0 2
Diencephalic-mesencephalic junction dysplasia syndrome 1 1 0 1 0 0 2
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 1 1 0 2
Diffuse nonepidermolytic palmoplantar keratoderma 0 0 2 0 0 2
Dilated cardiomyopathy 1CC 0 0 2 0 0 2
Dilated cardiomyopathy 1NN 0 0 2 0 0 2
Dilated cardiomyopathy 1O 0 0 2 0 0 2
Duane-radial ray syndrome 1 0 1 0 0 2
Dystonia 28, childhood-onset 0 0 2 0 0 2
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 0 2 0 0 2
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 1 0 1 0 0 2
Ectodermal dysplasia and immunodeficiency 1 0 0 0 2 0 2
Ehlers-Danlos syndrome, periodontal type 1 0 0 0 2 0 2
Encephalopathy, acute, infection-induced, susceptibility to, 9 1 0 1 0 0 2
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 1 1 0 0 0 2
Epilepsy, childhood absence, susceptibility to, 6 0 0 2 0 0 2
Epilepsy, idiopathic generalized, susceptibility to, 10 1 0 1 0 0 2
Episodic kinesigenic dyskinesia 1 0 0 2 0 0 2
Erythrocytosis, familial, 4 2 0 0 0 0 2
Ethylmalonic encephalopathy 1 0 1 0 0 2
Exudative vitreoretinopathy 1 2 0 0 0 0 2
FRAXE 0 0 2 0 0 2
Failure to thrive; Cutaneous photosensitivity; Cholestatic liver disease; Premature ovarian insufficiency; Global proximal tubulopathy 2 0 0 0 0 2
Familial acute necrotizing encephalopathy 1 0 1 0 0 2
Familial cardiomyopathy 1 0 1 0 0 2
Familial hypocalciuric hypercalcemia 1 1 1 0 0 0 2
Familial infantile myasthenia 1 1 0 0 0 2
Familial isolated dilated cardiomyopathy 0 0 1 1 0 2
Fanconi anemia complementation group C 1 1 0 0 0 2
Fanconi anemia complementation group P 0 0 2 0 0 2
Fanconi anemia complementation group Q 0 0 1 1 0 2
Fanconi anemia complementation group R 0 1 1 0 0 2
Fanconi anemia, complementation group S 1 0 1 0 0 2
Febrile seizures, familial, 8 1 0 1 0 0 2
Fibrosis of extraocular muscles, congenital, 5 0 2 0 0 0 2
Filippi syndrome 1 0 1 0 0 2
Focal segmental glomerulosclerosis 1 1 0 1 0 0 2
Focal segmental glomerulosclerosis 8 0 0 2 0 0 2
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 2 0 0 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 1 0 1 0 0 2
GLUT1 deficiency syndrome 1 1 0 0 0 2
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 1 0 1 0 0 2
Galloway-Mowat syndrome 3 1 1 0 0 0 2
Galloway-Mowat syndrome 4 0 0 2 0 0 2
Geleophysic dysplasia 1 0 0 1 1 0 2
Genitourinary and/or brain malformation syndrome 0 0 2 0 0 2
Glaucoma 3A 1 0 1 0 0 2
Global developmental delay with speech and behavioral abnormalities 0 0 2 0 0 2
Glomuvenous malformation 2 0 0 0 0 2
Glucose-6-phosphate transport defect 2 0 0 0 0 2
Glutaric aciduria, type 1 2 0 0 0 0 2
Glycogen storage disease due to muscle beta-enolase deficiency 0 1 1 0 0 2
Glycosylphosphatidylinositol biosynthesis defect 15 2 0 0 0 0 2
Granulomatous disease, chronic, X-linked 2 0 0 0 0 2
Hecht syndrome 1 0 1 0 0 2
Hemochromatosis type 2A 0 0 2 0 0 2
Hereditary cancer-predisposing syndrome 1 1 0 0 0 2
Hereditary spastic paraplegia 35 1 0 1 0 0 2
Hereditary spastic paraplegia 47 2 0 0 0 0 2
Hereditary spastic paraplegia 56 0 1 1 0 0 2
Hereditary spastic paraplegia 74 1 1 0 0 0 2
Hermansky-Pudlak syndrome 5 0 0 1 1 0 2
Heterotaxy, visceral, 8, autosomal 1 0 1 0 0 2
Hirschsprung disease, susceptibility to, 1 0 2 0 0 0 2
Holocarboxylase synthetase deficiency 1 1 0 0 0 2
Holoprosencephaly 11 0 0 2 0 0 2
Holoprosencephaly 3 0 1 1 0 0 2
Holoprosencephaly 5 0 0 2 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 2 1 0 1 0 0 2
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 2 0 0 0 2
Hyperinsulinemic hypoglycemia, familial, 4 0 2 0 0 0 2
Hyperphosphatasia with intellectual disability syndrome 4 0 1 1 0 0 2
Hyperphosphatasia with intellectual disability syndrome 5 0 0 2 0 0 2
Hypertrophic cardiomyopathy 10 0 0 2 0 0 2
Hypogonadotropic hypogonadism 14 with or without anosmia 0 0 2 0 0 2
Hypogonadotropic hypogonadism 3 with or without anosmia 0 2 0 0 0 2
Hypomyelinating leukodystrophy 12 0 0 2 0 0 2
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0 1 1 0 0 2
Infantile cerebellar-retinal degeneration 0 0 2 0 0 2
Infantile liver failure syndrome 1 1 1 0 0 0 2
Infantile nephronophthisis 1 1 0 0 0 2
Infantile-onset ascending hereditary spastic paralysis 2 0 0 0 0 2
Intellectual developmental disorder 61 1 0 1 0 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 0 1 0 0 2
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 0 2 0 0 2
Intellectual developmental disorder with short stature and behavioral abnormalities 0 0 2 0 0 2
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 1 1 0 2
Intellectual disability, X-linked 49 0 0 2 0 0 2
Intellectual disability, X-linked 93 0 0 2 0 0 2
Intellectual disability, X-linked 99, syndromic, female-restricted 1 1 0 0 0 2
Intellectual disability, autosomal dominant 15 1 0 1 0 0 2
Intellectual disability, autosomal dominant 27 0 1 1 0 0 2
Intellectual disability, autosomal dominant 50 1 0 1 0 0 2
Intellectual disability, autosomal dominant 51 0 1 1 0 0 2
Intellectual disability, autosomal dominant 53 1 0 1 0 0 2
Intellectual disability, autosomal dominant 55, with seizures 2 0 0 0 0 2
Intellectual disability, autosomal dominant 6 2 0 0 0 0 2
Intellectual disability, autosomal recessive 27 1 0 1 0 0 2
Intellectual disability, autosomal recessive 57 2 0 0 0 0 2
Intellectual disability, autosomal recessive 58 1 1 0 0 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 1 1 0 2
Joubert syndrome 1 1 1 0 0 0 2
Joubert syndrome 13 1 1 0 0 0 2
Joubert syndrome 14 2 0 0 0 0 2
Joubert syndrome 25 0 0 2 0 0 2
Joubert syndrome 30 0 0 2 0 0 2
Joubert syndrome 6 2 0 0 0 0 2
Joubert syndrome 7 0 1 1 0 0 2
Juvenile retinoschisis 2 0 0 0 0 2
KCNH1 associated disorder 0 0 2 0 0 2
Kartagener syndrome 1 0 1 0 0 2
Kugelberg-Welander disease 1 0 0 1 0 2
Lamb-Shaffer syndrome 0 0 2 0 0 2
Leber congenital amaurosis 10 2 0 0 0 0 2
Leber congenital amaurosis 3 2 0 0 0 0 2
Legius syndrome 2 0 0 0 0 2
Leukodystrophy, hypomyelinating, 15 0 0 2 0 0 2
Leukoencephalopathy, progressive, with ovarian failure 1 0 1 0 0 2
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 0 2 0 0 2
Lipoyl transferase 1 deficiency 1 1 0 0 0 2
Lissencephaly 4 0 0 2 0 0 2
Lissencephaly type 1 due to doublecortin gene mutation 1 1 0 0 0 2
Loeys-Dietz syndrome 6 1 0 1 0 0 2
Long QT syndrome 3 2 0 0 0 0 2
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 2 0 0 2
Malan overgrowth syndrome 2 0 0 0 0 2
Maple syrup urine disease 2 0 0 0 0 2
Martsolf syndrome 1 0 0 2 0 0 2
Maturity-onset diabetes of the young type 3 2 0 0 0 0 2
Meckel syndrome, type 6 2 0 0 0 0 2
Meester-Loeys syndrome 0 1 1 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 1 1 0 0 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 1 0 1 0 0 2
Merosin deficient congenital muscular dystrophy 1 1 0 0 0 2
Metaphyseal chondrodysplasia, McKusick type 2 0 0 0 0 2
Microcephaly 15, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly 17, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly 20, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly, developmental delay, and brittle hair syndrome 0 0 2 0 0 2
Microcephaly, seizures, and developmental delay 2 0 0 0 0 2
Microcephaly, short stature, and limb abnormalities 1 0 0 1 0 2
Mitochondrial DNA depletion syndrome, myopathic form 2 0 0 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 17 1 1 0 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 22 0 0 2 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 3 0 2 0 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 4 1 0 1 0 0 2
Mitochondrial complex 2 deficiency, nuclear type 2 2 0 0 0 0 2
Mosaic variegated aneuploidy syndrome 1 0 0 2 0 0 2
Mosaic variegated aneuploidy syndrome 3 0 0 2 0 0 2
Mucopolysaccharidosis type 7 1 0 1 0 0 2
Mucopolysaccharidosis, MPS-II 0 1 1 0 0 2
Mucopolysaccharidosis, MPS-III-C 0 0 2 0 0 2
Multiple endocrine neoplasia, type 1 2 0 0 0 0 2
Multisystemic smooth muscle dysfunction syndrome 2 0 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 1 0 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 0 2 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 0 2 0 0 2
Myhre syndrome 2 0 0 0 0 2
Myopathy caused by variation in FKTN 0 0 2 0 0 2
Myopathy caused by variation in POMGNT1 2 0 0 0 0 2
NAD(P)HX dehydratase deficiency 1 1 0 0 0 2
Nail-patella syndrome 1 0 1 0 0 2
Neonatal intrahepatic cholestasis due to citrin deficiency 1 0 1 0 0 2
Neonatal severe primary hyperparathyroidism 0 2 0 0 0 2
Nephronophthisis 4 1 0 1 0 0 2
Neu-Laxova syndrome 2 1 0 1 0 0 2
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 2 0 0 2
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 0 0 2 0 0 2
Neurodegeneration, infantile-onset, biotin-responsive 1 1 0 0 0 2
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 0 2 0 0 2
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 1 0 1 0 0 2
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 2 0 0 2
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 0 2 0 0 2
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0 0 2 0 0 2
Neurofibromatosis-Noonan syndrome 2 0 0 0 0 2
Neuronal ceroid lipofuscinosis 3 1 1 0 0 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 1 0 0 2
Neutral lipid storage myopathy 0 0 2 0 0 2
Non-syndromic X-linked intellectual disability 1 0 1 0 0 2
Noonan syndrome-like disorder with loose anagen hair 2 2 0 0 0 0 2
Oculocerebrofacial syndrome, Kaufman type 0 0 2 0 0 2
Oculocutaneous albinism type 1B 2 0 0 0 0 2
Okur-Chung neurodevelopmental syndrome 2 0 0 0 0 2
Orofaciodigital syndrome type 14 0 0 2 0 0 2
Osteogenesis imperfecta type 7 2 0 0 0 0 2
Osteogenesis imperfecta type 8 1 0 1 0 0 2
Otofaciocervical syndrome 2 0 0 2 0 0 2
Pearson syndrome 2 0 0 0 0 2
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 1 1 0 0 0 2
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 2 0 0 2
Periventricular nodular heterotopia 9 0 0 2 0 0 2
Perlman syndrome 0 0 2 0 0 2
Peroxisome biogenesis disorder 0 0 2 0 0 2
Perrault syndrome 1 1 1 0 0 0 2
Poirier-Bienvenu neurodevelopmental syndrome 0 0 2 0 0 2
Pontocerebellar hypoplasia type 9 1 0 1 0 0 2
Porencephaly 2 0 1 1 0 0 2
Primary ciliary dyskinesia 14 1 0 1 0 0 2
Primary coenzyme Q10 deficiency 8 0 0 2 0 0 2
Primary hyperoxaluria, type II 1 1 0 0 0 2
Primrose syndrome 0 0 1 1 0 2
Progressive myoclonic epilepsy type 3 1 1 0 0 0 2
Progressive pseudorheumatoid dysplasia 2 0 0 0 0 2
Proteinuria, chronic benign 0 0 2 0 0 2
Protoporphyria, erythropoietic, 1 2 0 0 0 0 2
Rafiq syndrome 0 1 1 0 0 2
Retinitis pigmentosa 11 1 0 1 0 0 2
Retinitis pigmentosa 26 2 0 0 0 0 2
Retinitis pigmentosa 39 2 0 0 0 0 2
Retinitis pigmentosa 70 0 0 2 0 0 2
Rett syndrome, congenital variant 1 1 0 0 0 2
Roifman syndrome 0 2 0 0 0 2
SSR4-congenital disorder of glycosylation 0 0 2 0 0 2
Sandhoff disease 1 0 1 0 0 2
Schimke immuno-osseous dysplasia 1 1 0 0 0 2
Schuurs-Hoeijmakers syndrome 1 0 1 0 0 2
Seizures, benign familial neonatal, 1 2 0 0 0 0 2
Sengers syndrome 2 0 0 0 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 1 0 0 2
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 2 0 0 0 0 2
Shashi-Pena syndrome 0 0 2 0 0 2
Short-rib thoracic dysplasia 15 with polydactyly 0 0 2 0 0 2
Short-rib thoracic dysplasia 7 with or without polydactyly 0 0 2 0 0 2
Shprintzen-Goldberg syndrome 0 0 1 1 0 2
Shwachman-Diamond syndrome 1 2 0 0 0 0 2
Sialic acid storage disease, severe infantile type 1 1 0 0 0 2
Sialidosis type 2 2 0 0 0 0 2
Situs inversus 0 1 1 0 0 2
Spastic ataxia 4 0 0 2 0 0 2
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 1 0 1 0 0 2
Spinocerebellar ataxia type 26 0 0 2 0 0 2
Spinocerebellar ataxia type 42 0 0 2 0 0 2
Sponastrime dysplasia 1 0 1 0 0 2
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 0 1 0 0 2
Stickler syndrome, type I, nonsyndromic ocular 1 1 0 0 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2 0 0 0 0 2
Syndromic X-linked intellectual disability 14 1 0 1 0 0 2
Syndromic X-linked intellectual disability Raymond type 0 0 1 0 1 2
TELO2-related intellectual disability-neurodevelopmental disorder 1 0 1 0 0 2
Tessadori-van Haaften neurodevelopmental syndrome 1 1 1 0 0 0 2
Tetralogy of Fallot 0 0 2 0 0 2
Thrombocytopenia 5 0 0 2 0 0 2
Tolchin-Le Caignec syndrome 1 0 1 0 0 2
Torsion dystonia 6 0 1 1 0 0 2
Townes-Brocks syndrome 1 0 0 2 0 0 2
Trichorhinophalangeal syndrome type I or III 1 0 1 0 0 2
Tumoral calcinosis, hyperphosphatemic, familial, 1 2 0 0 0 0 2
Ullrich congenital muscular dystrophy 1 0 0 2 0 0 2
Upshaw-Schulman syndrome 1 1 0 0 0 2
Usher syndrome type 2 1 0 1 0 0 2
Usher syndrome type 2C 0 0 2 0 0 2
Ververi-Brady syndrome 0 0 2 0 0 2
Visceral myopathy 1 2 0 0 0 0 2
WDR81-related neurodevelopmental disorder 1 1 0 0 0 2
Warburg micro syndrome 2 0 0 2 0 0 2
Weaver syndrome 1 0 1 0 0 2
Wiskott-Aldrich syndrome 2 0 0 0 0 2
X-linked chondrodysplasia punctata 1 0 2 0 0 0 2
X-linked cone-rod dystrophy 3 2 0 0 0 0 2
X-linked hydrocephalus syndrome 1 0 1 0 0 2
X-linked intellectual disability, Cantagrel type 1 0 1 0 0 2
X-linked intellectual disability-short stature-overweight syndrome 1 0 1 0 0 2
X-linked mixed hearing loss with perilymphatic gusher 0 1 1 0 0 2
Xeroderma pigmentosum group A 2 0 0 0 0 2
Xeroderma pigmentosum group B 2 0 0 0 0 2
Xeroderma pigmentosum, group D 1 1 0 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 0 0 1
3-methylglutaconic aciduria type 1 1 0 0 0 0 1
46,XY sex reversal 7 0 0 1 0 0 1
ALG2-congenital disorder of glycosylation 0 0 1 0 0 1
ALG6-congenital disorder of glycosylation 1C 1 0 0 0 0 1
ALG9 congenital disorder of glycosylation 1 0 0 0 0 1
AP4-related intellectual disability and spastic paraplegia 0 0 1 0 0 1
ATP1A3-associated neurological disorder 1 0 0 0 0 1
ATP6AP2-related disorder 0 0 1 0 0 1
Achondrogenesis type II 1 0 0 0 0 1
Achondrogenesis, type IA 1 0 0 0 0 1
Achromatopsia 4 1 0 0 0 0 1
Acral peeling skin syndrome 1 0 0 0 0 1
Acrocallosal syndrome 0 0 1 0 0 1
Acrodysostosis 1 with or without hormone resistance 1 0 0 0 0 1
Acrofacial dysostosis Cincinnati type 0 1 0 0 0 1
Acromelic frontonasal dysostosis 0 0 1 0 0 1
Acute intermittent porphyria 0 0 1 0 0 1
Adams-Oliver syndrome 3 0 0 1 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 0 1
Aicardi-Goutieres syndrome 6 0 1 0 0 0 1
Allan-Herndon-Dudley syndrome 0 0 1 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 0 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 0 0 1
Alzheimer disease type 1 1 0 0 0 0 1
Amelogenesis imperfecta, hypomaturation type, IIa6 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 15 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 2, juvenile 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 10 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 1 0 0 1
Aortic valve disease 1 0 0 0 1 0 1
Aortic valve disease 2 0 0 1 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 0 1
Arrhinia with choanal atresia and microphthalmia syndrome 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 10 1 0 0 0 0 1
Arterial calcification, generalized, of infancy, 2 1 0 0 0 0 1
Arterial tortuosity syndrome 0 0 1 0 0 1
Arthrogryposis, renal dysfunction, and cholestasis 2 0 0 0 1 0 1
Arts syndrome 0 0 1 0 0 1
Asphyxiating thoracic dystrophy 4 0 0 1 0 0 1
Atrial fibrillation, familial, 7 0 0 1 0 0 1
Atrial septal defect 2 0 0 1 0 0 1
Atrial septal defect 4 0 1 0 0 0 1
Atrial septal defect 8 0 0 1 0 0 1
Atrial septal defect 9 0 0 1 0 0 1
Atrioventricular septal defect 5 0 0 1 0 0 1
Atypical glycine encephalopathy 0 0 1 0 0 1
Autosomal dominant Parkinson disease 4 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 0 1 0 1
Autosomal dominant deafness - onychodystrophy syndrome 1 0 0 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 0 1 0 0 1
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 0 0 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 1 0 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 5 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 10 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 17 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 3A 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 40 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 44 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 4A 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 56 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 7 0 0 1 0 0 1
Autosomal dominant omodysplasia 1 0 0 0 0 1
Autosomal dominant pseudohypoaldosteronism type 1 0 0 1 0 0 1
Autosomal recessive Alport syndrome 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 4B 1 0 0 0 0 1
Autosomal recessive congenital ichthyosis 6 1 0 0 0 0 1
Autosomal recessive early-onset Parkinson disease 6 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2P 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2U 1 0 0 0 0 1
Autosomal recessive non-syndromic intellectual disability 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 16 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 18A 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 1B 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 21 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 25 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 29 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 30 0 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 35 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 36 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 49 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 67 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 79 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 1 0 0 0 0 1
Autosomal recessive omodysplasia 0 0 1 0 0 1
Autosomal recessive osteopetrosis 4 0 1 0 0 0 1
Autosomal recessive pseudohypoaldosteronism type 1 1 0 0 0 0 1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 0 0 1 0 0 1
Autosomal recessive spastic paraplegia type 76 0 0 1 0 0 1
Axenfeld-Rieger syndrome type 1 0 1 0 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 0 1
Ayme-Gripp syndrome 0 0 1 0 0 1
BRAT1-related neurodevelopmental disorder 0 1 0 0 0 1
Baraitser-winter syndrome 2 0 1 0 0 0 1
Bardet-Biedl syndrome 1 1 0 0 0 0 1
Bardet-Biedl syndrome 16 0 0 1 0 0 1
Bardet-Biedl syndrome 3 1 0 0 0 0 1
Bartter disease type 3 1 0 0 0 0 1
Bartter disease type 5 0 1 0 0 0 1
Basal ganglia calcification, idiopathic, 5 0 0 1 0 0 1
Benign hereditary chorea 1 0 0 0 0 1
Bent bone dysplasia syndrome 1 1 0 0 0 0 1
Bethlem myopathy 2 0 0 0 1 0 1
Bietti crystalline corneoretinal dystrophy 0 0 1 0 0 1
Birk-Barel syndrome 1 0 0 0 0 1
Blepharocheilodontic syndrome 1 0 0 1 0 0 1
Blepharophimosis-impaired intellectual development syndrome 0 1 0 0 0 1
Bone fragility with contractures, arterial rupture, and deafness 0 0 1 0 0 1
Bone marrow failure syndrome 4 1 0 0 0 0 1
Bone mineral density quantitative trait locus 18 0 0 1 0 0 1
Brachydactyly-elbow wrist dysplasia syndrome 0 0 1 0 0 1
Branchiooculofacial syndrome 1 0 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 4 1 0 0 0 0 1
Brittle cornea syndrome 1 0 0 1 0 0 1
Brugada syndrome 0 0 1 0 0 1
Brugada syndrome 2 0 0 1 0 0 1
Bullous ichthyosiform erythroderma 1 0 0 0 0 1
C1Q deficiency 0 0 1 0 0 1
CCDC115-CDG 0 0 1 0 0 1
CODAS syndrome 0 0 1 0 0 1
COG6-ongenital disorder of glycosylation 0 0 1 0 0 1
Cardiac valvular dysplasia, X-linked 0 0 1 0 0 1
Cardiac-urogenital syndrome 1 0 0 0 0 1
Cardioacrofacial dysplasia 2 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 2 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 1 0 0 0 0 1
Cardiospondylocarpofacial syndrome 0 1 0 0 0 1
Cataract 1 multiple types 1 0 0 0 0 1
Cataract 15 multiple types 1 0 0 0 0 1
Cataract 20 multiple types 0 0 1 0 0 1
Cataract 21 multiple types 0 0 1 0 0 1
Cataract 30 0 0 1 0 0 1
Cataract 38 1 0 0 0 0 1
Cataract 48 0 0 1 0 0 1
Cataract 6 multiple types 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 1 0 0 0 1
Catifa syndrome 0 0 1 0 0 1
Central core myopathy 0 1 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 0 1 0 0 1
Cerebellar ataxia-hypogonadism syndrome 0 0 1 0 0 1
Cerebellar atrophy with seizures and variable developmental delay 1 0 0 0 0 1
Cerebellar-facial-dental syndrome 0 0 1 0 0 1
Cerebral folate transport deficiency 0 0 1 0 0 1
Cerebro-costo-mandibular syndrome 1 0 0 0 0 1
Char syndrome 0 0 1 0 0 1
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked recessive 4 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2CC 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2L 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2N 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2X 0 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate E 0 0 0 1 0 1
Charcot-Marie-Tooth disease dominant intermediate F 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2Y 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4F 0 0 1 0 0 1
Childhood onset GLUT1 deficiency syndrome 2 1 0 0 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 0 0 0 0 1
Chondrodysplasia punctata 2 X-linked dominant 1 0 0 0 0 1
Chopra-Amiel-Gordon syndrome 0 0 1 0 0 1
Chudley-McCullough syndrome 1 0 0 0 0 1
Ciliary dyskinesia, primary, 41 0 0 1 0 0 1
Ciliopathy 0 0 1 0 0 1
Cleft lip with or without cleft palate 1 0 0 0 0 1
Cobalamin C disease 1 0 0 0 0 1
Cobblestone lissencephaly without muscular or ocular involvement 0 0 1 0 0 1
Coffin-Lowry syndrome 1 0 0 0 0 1
Coffin-Siris syndrome 7 0 1 0 0 0 1
Cohen-Gibson syndrome 1 0 0 0 0 1
Collagen 6-related myopathy 0 0 1 0 0 1
Combined deficiency of sialidase AND beta galactosidase 1 0 0 0 0 1
Combined immunodeficiency due to LRBA deficiency 0 0 1 0 0 1
Combined immunodeficiency due to MALT1 deficiency 0 1 0 0 0 1
Combined immunodeficiency, X-linked 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 27 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 7 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 32 1 0 0 0 0 1
Combined oxidative phosphorylation deficiency 39 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 40 0 0 1 0 0 1
Cone dystrophy 3 0 0 1 0 0 1
Cone-rod dystrophy 20 0 0 1 0 0 1
Cone-rod dystrophy 7 0 0 1 0 0 1
Cone-rod synaptic disorder, congenital nonprogressive 1 0 0 0 0 1
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 0 0 1 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 0 1 0 0 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 0 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 1 0 0 1
Congenital central hypoventilation 1 0 0 0 0 1
Congenital cerebellar hypoplasia 0 0 1 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 0 0 1
Congenital disorder of glycosylation type 1E 1 0 0 0 0 1
Congenital disorder of glycosylation, type IAA 0 0 1 0 0 1
Congenital disorder of glycosylation, type IIr 0 0 1 0 0 1
Congenital fibrosis of extraocular muscles type 1 1 0 0 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 1 0 0 0 1
Congenital heart defects, multiple types, 2 1 0 0 0 0 1
Congenital isolated adrenocorticotropic hormone deficiency 0 0 0 1 0 1
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 0 0 0 0 1
Congenital myasthenic syndrome 10 1 0 0 0 0 1
Congenital secretory sodium diarrhea 3 0 1 0 0 0 1
Congenital stationary night blindness 1E 1 0 0 0 0 1
Cornelia de Lange syndrome 3 0 0 1 0 0 1
Cornelia de Lange syndrome 4 1 0 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 9 0 0 1 0 0 1
Cowden syndrome 5 0 0 1 0 0 1
Cowden syndrome 6 0 0 1 0 0 1
Craniofrontonasal syndrome 0 1 0 0 0 1
Craniosynostosis 7 0 0 1 0 0 1
Cryopyrin associated periodic syndrome 0 0 1 0 0 1
Cryptorchidism 0 0 1 0 0 1
Cutaneous porphyria 1 0 0 0 0 1
Cutis laxa with osteodystrophy 0 0 1 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 1 0 0 1
Cystinuria 1 0 0 0 0 1
D-2-hydroxyglutaric aciduria 2 1 0 0 0 0 1
DeSanto-Shinawi syndrome 1 0 0 0 0 1
Deafness with labyrinthine aplasia, microtia, and microdontia 0 0 1 0 0 1
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 1 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 1 0 0 0 0 1
Deficiency of guanidinoacetate methyltransferase 1 0 0 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 0 0 1
Deficiency of iodide peroxidase 1 0 0 0 0 1
Deficiency of malonyl-CoA decarboxylase 1 0 0 0 0 1
Dent disease type 2 0 0 1 0 0 1
Dermatofibrosis lenticularis disseminata 1 0 0 0 0 1
Developmental and epileptic encephalopathy 96 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 24 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 31 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 32 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 35 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 36 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 39 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 45 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 52 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 56 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 58 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 60 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 70 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 71 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 73 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 79 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 83 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 87 0 0 0 1 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 1 0 0 0 1
DiGeorge syndrome 0 0 1 0 0 1
Diamond-Blackfan anemia 12 0 1 0 0 0 1
Dilated cardiomyopathy 1E 0 0 1 0 0 1
Dilated cardiomyopathy 1EE 0 0 1 0 0 1
Dilated cardiomyopathy 1II 0 1 0 0 0 1
Dilated cardiomyopathy 1P 1 0 0 0 0 1
Dilated cardiomyopathy 1R 0 0 1 0 0 1
Dilated cardiomyopathy 1S 1 0 0 0 0 1
Dilated cardiomyopathy 1Y 0 0 1 0 0 1
Distal arthrogryposis type 2B1 1 0 0 0 0 1
Distal spinal muscular atrophy 1 0 0 0 0 1
Distichiasis-lymphedema syndrome 1 0 0 0 0 1
Drash syndrome 1 0 0 0 0 1
Dysequilibrium syndrome 0 1 0 0 0 1
Dyskeratosis congenita 0 0 1 0 0 1
Dyskeratosis congenita, X-linked 0 0 0 1 0 1
Dyskeratosis congenita, autosomal dominant 3 0 0 1 0 0 1
Dystonia 24 0 0 1 0 0 1
Dystonia 25 0 0 1 0 0 1
Dystonic disorder 0 0 1 0 0 1
Dystrophinopathy 1 0 0 0 0 1
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 1 0 0 0 1
Ectopia lentis 2, isolated, autosomal recessive 1 0 0 0 0 1
Ectrodactyly 0 1 0 0 0 1
Ehlers-Danlos syndrome, arthrochalasis type 0 0 0 1 0 1
Ehlers-Danlos syndrome, dermatosparaxis type 0 0 1 0 0 1
Ehlers-Danlos syndrome, spondylodysplastic type, 1 1 0 0 0 0 1
Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 0 1 0 0 1
Elliptocytosis 3 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 0 0 1
Encephalopathy, progressive, with amyotrophy and optic atrophy 0 0 1 0 0 1
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 1 0 0 0 0 1
Epidermolysis bullosa, junctional 3B, severe 1 0 0 0 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 0 1 0 0 1
Epileptic encephalopathy, infantile or early childhood, 1 1 0 0 0 0 1
Episodic ataxia type 1 0 1 0 0 0 1
Episodic ataxia type 6 0 0 1 0 0 1
Exostoses, multiple, type 1 1 0 0 0 0 1
Exudative vitreoretinopathy 5 0 0 1 0 0 1
Exudative vitreoretinopathy 7 0 0 1 0 0 1
FG syndrome 2 0 0 1 0 0 1
FG syndrome 4 1 0 0 0 0 1
FGFR2-related disorder 0 0 1 0 0 1
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 0 0 1 0 0 1
Factor XIII, b subunit, deficiency of 1 0 0 0 0 1
Familial Alzheimer disease 1 0 0 0 0 1
Familial episodic pain syndrome with predominantly lower limb involvement 0 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 4 0 0 1 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 0 1
Familial pityriasis rubra pilaris 0 0 1 0 0 1
Familial visceral amyloidosis, Ostertag type 1 0 0 0 0 1
Fanconi anemia complementation group B 0 0 0 1 0 1
Fanconi anemia complementation group D2 0 0 1 0 0 1
Fanconi anemia complementation group G 0 0 1 0 0 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 1 0 0 0 0 1
Focal dermal hypoplasia 1 0 0 0 0 1
Fraser syndrome 1 0 0 1 0 0 1
Frasier syndrome 1 0 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 0 0 1 0 0 1
Fuhrmann syndrome 0 0 1 0 0 1
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 1 0 0 0 0 1
GRIK2-related neurodevelopmental disorder 1 0 0 0 0 1
Genitopatellar syndrome 0 0 1 0 0 1
Gillespie syndrome 0 0 1 0 0 1
Global developmental delay with or without impaired intellectual development 1 0 0 0 0 1
Glucocorticoid deficiency with achalasia 0 0 1 0 0 1
Glutamate formiminotransferase deficiency 0 0 1 0 0 1
Glycogen storage disease IXa1 0 1 0 0 0 1
Glycogen storage disease IXd 0 0 1 0 0 1
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 0 0 1 0 0 1
Glycogen storage disease, type IV 1 0 0 0 0 1
HSD10 mitochondrial disease 1 0 0 0 0 1
HUWE1-related neurodevelopmental disorder 0 1 0 0 0 1
Hamartoma of hypothalamus 1 0 0 0 0 1
Hand-foot-genital syndrome 0 1 0 0 0 1
Hao-Fountain syndrome 1 0 0 0 0 1
Hearing loss, X-linked 6 0 0 1 0 0 1
Hearing loss, autosomal recessive 0 0 1 0 0 1
Hearing loss, autosomal recessive 100 0 0 1 0 0 1
Hearing loss, autosomal recessive 110 0 1 0 0 0 1
Hemochromatosis type 1 1 0 0 0 0 1
Hemochromatosis type 3 0 0 1 0 0 1
Hemorrhage, intracerebral, susceptibility to 0 0 1 0 0 1
Hereditary ATTR amyloidosis 0 0 1 0 0 1
Hereditary arterial and articular multiple calcification syndrome 0 1 0 0 0 1
Hereditary factor IX deficiency disease 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy type 6 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy type 7 0 0 1 0 0 1
Hereditary spastic paraplegia 10 0 0 1 0 0 1
Hereditary spastic paraplegia 28 0 0 1 0 0 1
Hereditary spastic paraplegia 31 0 1 0 0 0 1
Hereditary spastic paraplegia 50 1 0 0 0 0 1
Hereditary spastic paraplegia 53 0 0 1 0 0 1
Hereditary spastic paraplegia 54 0 1 0 0 0 1
Hereditary spastic paraplegia 5A 0 0 1 0 0 1
Hereditary spastic paraplegia 6 0 0 1 0 0 1
Hereditary spastic paraplegia 7 1 0 0 0 0 1
Hereditary spastic paraplegia 73 0 0 1 0 0 1
Hereditary spherocytosis type 2 0 1 0 0 0 1
Hereditary xanthinuria type 1 1 0 0 0 0 1
Heterotopia, periventricular, X-linked dominant 0 0 1 0 0 1
Hidrotic ectodermal dysplasia syndrome 0 0 1 0 0 1
Histiocytic medullary reticulosis 1 0 0 0 0 1
Holoprosencephaly 4 0 0 1 0 0 1
Holoprosencephaly 9 0 0 1 0 0 1
Hyper-IgM syndrome type 1 1 0 0 0 0 1
Hyperaldosteronism, familial, type IV 0 0 1 0 0 1
Hypercalcemia, infantile, 2 0 1 0 0 0 1
Hypercholesterolemia, autosomal dominant, 3 1 0 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 1 0 0 1 0 0 1
Hyperphosphatasia with intellectual disability syndrome 2 0 0 1 0 0 1
Hyperphosphatasia with intellectual disability syndrome 3 0 0 1 0 0 1
Hypertrophic cardiomyopathy 11 0 0 1 0 0 1
Hypertrophic cardiomyopathy 12 0 0 1 0 0 1
Hypertrophic cardiomyopathy 19 0 0 1 0 0 1
Hypertrophic cardiomyopathy 4 0 0 1 0 0 1
Hypertrophic cardiomyopathy 6 1 0 0 0 0 1
Hypertrophic cardiomyopathy 7 1 0 0 0 0 1
Hypertrophic cardiomyopathy 9 0 1 0 0 0 1
Hyperuricemic nephropathy, familial juvenile type 4 0 1 0 0 0 1
Hypogonadism with anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 1 0 0 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 0 1
Hypomyelinating leukodystrophy 11 0 1 0 0 0 1
Hypomyelinating leukodystrophy 6 0 1 0 0 0 1
Hypopituitarism 1 0 0 0 0 1
Hypoplastic left heart syndrome 0 0 1 0 0 1
Hypospadias 2, X-linked 0 0 1 0 0 1
Hypotonia with lactic acidemia and hyperammonemia 0 1 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 0 0 1
Hypotrichosis 14 0 0 1 0 0 1
Hypotrichosis 6 0 0 1 0 0 1
Hypotrichosis 8 0 0 1 0 0 1
Ichthyosis vulgaris 1 0 0 0 0 1
Immunodeficiency 0 0 1 0 0 1
Immunodeficiency 31B 1 0 0 0 0 1
Immunodeficiency 75 0 0 1 0 0 1
Immunodeficiency 78 with autoimmunity and developmental delay 0 0 1 0 0 1
Immunodeficiency, developmental delay, and hypohomocysteinemia 0 1 0 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 1 0 0 0 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 1 0 0 1
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 0 1 0 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 1 0 0 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 0 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 0 1 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 1 0 0 0 0 1
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 0 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 72 0 1 0 0 0 1
Intellectual disability, FRA12A type 0 0 1 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 0 1
Intellectual disability, X-linked 105 0 0 1 0 0 1
Intellectual disability, X-linked 106 0 0 1 0 0 1
Intellectual disability, X-linked 30 0 0 1 0 0 1
Intellectual disability, X-linked 61 0 0 1 0 0 1
Intellectual disability, X-linked 63 0 0 1 0 0 1
Intellectual disability, X-linked 96 0 0 1 0 0 1
Intellectual disability, X-linked 99 0 0 1 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 0 1
Intellectual disability, X-linked, syndromic, Houge type 1 0 0 0 0 1
Intellectual disability, X-linked, with or without seizures, arx-related 1 0 0 0 0 1
Intellectual disability, X-linked, with panhypopituitarism 0 0 1 0 0 1
Intellectual disability, autosomal dominant 0 0 1 0 0 1
Intellectual disability, autosomal dominant 11 0 0 1 0 0 1
Intellectual disability, autosomal dominant 46 0 1 0 0 0 1
Intellectual disability, autosomal dominant 48 0 0 1 0 0 1
Intellectual disability, autosomal dominant 8 0 1 0 0 0 1
Intellectual disability, autosomal recessive 18 0 0 1 0 0 1
Intellectual disability, autosomal recessive 65 1 0 0 0 0 1
Intellectual disability, autosomal recessive 66 1 0 0 0 0 1
Intellectual disability-strabismus syndrome 0 0 1 0 0 1
Intestinal hypomagnesemia 1 1 0 0 0 0 1
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 1 0 0 0 0 1
Isolated congenital megalocornea 0 1 0 0 0 1
Isolated lutropin deficiency 0 0 0 1 0 1
Jackson-Weiss syndrome 1 0 0 0 0 1
Jawad syndrome 0 1 0 0 0 1
Johanson-Blizzard syndrome 0 0 1 0 0 1
Joubert syndrome 10 0 0 1 0 0 1
Joubert syndrome 16 0 0 1 0 0 1
Joubert syndrome 5 1 0 0 0 0 1
Junctional epidermolysis bullosa 0 0 1 0 0 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 1 0 0 0 0 1
Kallikrein, decreased urinary activity of 0 1 0 0 0 1
Keipert syndrome 0 0 1 0 0 1
Khan-Khan-Katsanis syndrome 0 1 0 0 0 1
Kohlschutter-Tonz syndrome-like 0 0 1 0 0 1
L-2-hydroxyglutaric aciduria 0 0 1 0 0 1
Large congenital melanocytic nevus 1 0 0 0 0 1
Lateral meningocele syndrome 1 0 0 0 0 1
Laurence-Moon syndrome 0 0 1 0 0 1
Leber congenital amaurosis 6 0 0 1 0 0 1
Leber optic atrophy 1 0 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 1
Left ventricular noncompaction 7 0 0 1 0 0 1
Lesch-Nyhan syndrome 1 0 0 0 0 1
Lethal congenital contracture syndrome 11 1 0 0 0 0 1
Lethal congenital glycogen storage disease of heart 1 0 0 0 0 1
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 1 0 0 0 1
Leukodystrophy, hypomyelinating, 16 0 0 1 0 0 1
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 1 0 0 1
Levy-Hollister syndrome 1 0 0 0 0 1
Li-Ghorbani-Weisz-Hubshman syndrome 0 0 1 0 0 1
Linear skin defects with multiple congenital anomalies 3 0 1 0 0 0 1
Lissencephaly 10 0 1 0 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 1 0 0 0 1
Long QT syndrome 10 0 0 1 0 0 1
Long QT syndrome 11 0 0 1 0 0 1
Long QT syndrome 13 0 0 1 0 0 1
Long QT syndrome 15 0 0 1 0 0 1
Long QT syndrome 16 1 0 0 0 0 1
Loricrin keratoderma 1 0 0 0 0 1
Lymphatic malformation 4 0 0 0 1 0 1
Lymphatic malformation 6 0 1 0 0 0 1
Lymphatic malformation 7 0 1 0 0 0 1
Lynch syndrome 5 1 0 0 0 0 1
MASA syndrome 0 0 1 0 0 1
MIRAGE syndrome 0 0 1 0 0 1
MOGS-congenital disorder of glycosylation 0 0 1 0 0 1
MYPN-related myopathy 0 0 1 0 0 1
Mandibular hypoplasia-deafness-progeroid syndrome 0 0 1 0 0 1
Marshall syndrome 0 0 1 0 0 1
Mast syndrome 0 0 1 0 0 1
Meckel-Gruber syndrome 0 0 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 1 0 0 0 0 1
Megalocornea 1 0 0 0 0 1
Melnick-Fraser syndrome 0 1 0 0 0 1
Menke-Hennekam syndrome 2 0 0 1 0 0 1
Metachromatic leukodystrophy, juvenile type 0 0 1 0 0 1
Metaphyseal chondrodysplasia, Schmid type 0 0 1 0 0 1
Methylmalonate semialdehyde dehydrogenase deficiency 0 0 1 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 1 0 0 0 0 1
Microcephalic primordial dwarfism, Alazami type 0 0 1 0 0 1
Microcephaly 13, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly 8, primary, autosomal recessive 1 0 0 0 0 1
Microcephaly, growth deficiency, seizures, and brain malformations 0 0 1 0 0 1
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 0 1 0 0 0 1
Microphthalmia, syndromic 12 0 1 0 0 0 1
Migraine, familial hemiplegic, 1 0 0 1 0 0 1
Migraine, with or without aura, susceptibility to, 13 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 20 (mngie type) 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 9 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 10 1 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 11 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 14 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 16 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 2 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 21 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 25 1 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 34 0 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 5 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 7 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 1 0 0 0 1
Mitochondrial disease 0 0 1 0 0 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 0 1 0 0 1
Moyamoya disease 2 1 0 0 0 0 1
Mucopolysaccharidosis type 1 1 0 0 0 0 1
Mucopolysaccharidosis type 6 1 0 0 0 0 1
Muenke syndrome 1 0 0 0 0 1
Mullegama-Klein-Martinez syndrome 0 0 1 0 0 1
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type 1 0 0 0 0 1
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 0 1 0 0 1
Multiple congenital anomalies/dysmorphic syndrome 1 0 0 0 0 1
Multiple endocrine neoplasia, type 2a 1 0 0 0 0 1
Multiple gastrointestinal atresias 1 0 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 2 1 0 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 3 1 0 0 0 0 1
Multiple self-healing squamous epithelioma 1 0 0 0 0 1
Multiple synostoses syndrome 3 0 1 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 0 0 1 0 0 1
Myasthenic syndrome, congenital, 24, presynaptic 0 0 1 0 0 1
Myasthenic syndrome, congenital, 25, presynaptic 0 0 1 0 0 1
Myofibrillar myopathy 4 1 0 0 0 0 1
Myofibrillar myopathy 5 0 0 1 0 0 1
Myopathy caused by variation in POMT1 0 0 1 0 0 1
Myopathy, centronuclear, 5 0 0 1 0 0 1
Myopathy, proximal, and ophthalmoplegia 0 0 1 0 0 1
Namaqualand hip dysplasia 1 0 0 0 0 1
Nance-Horan syndrome 1 0 0 0 0 1
Nemaline myopathy 10 0 0 1 0 0 1
Nemaline myopathy 6 0 0 1 0 0 1
Nemaline myopathy 8 0 0 1 0 0 1
Nephrogenic syndrome of inappropriate antidiuresis 1 0 0 0 0 1
Nephronophthisis 1 1 0 0 0 0 1
Nephronophthisis 20 0 0 1 0 0 1
Nephropathic cystinosis 1 0 0 0 0 1
Nephrotic syndrome 14 0 0 0 0 1 1
Nephrotic syndrome 15 0 0 1 0 0 1
Neurodegeneration with brain iron accumulation 2B 1 0 0 0 0 1
Neurodegeneration with brain iron accumulation 5 0 0 1 0 0 1
Neurodegeneration with brain iron accumulation 6 1 0 0 0 0 1
Neurodevelopmental disorder and language delay with or without structural brain abnormalities 1 0 0 0 0 1
Neurodevelopmental disorder with absent language and variable seizures 1 0 0 0 0 1
Neurodevelopmental disorder with alopecia and brain abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0 0 1 0 0 1
Neurodevelopmental disorder with central and peripheral motor dysfunction 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 0 1 0 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 0 0 0 0 1
Neurodevelopmental disorder with hearing loss and spasticity 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia and dysmorphic facies 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 1 0 0 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 0 0 0 1
Neurodevelopmental disorder with infantile epileptic spasms 0 0 0 1 0 1
Neurodevelopmental disorder with involuntary movements 1 0 0 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0 1 0 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 1 0 0 1
Neurodevelopmental disorder with poor language and loss of hand skills 0 0 1 0 0 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 1 0 0 0 1
Neurodevelopmental disorder with seizures and brain atrophy 0 0 1 0 0 1
Neurodevelopmental disorder with severe motor impairment and absent language 1 0 0 0 0 1
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 0 1 0 0 1
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0 0 1 0 0 1
Neurofibromatosis, type 2 1 0 0 0 0 1
Neurohypophyseal diabetes insipidus 1 0 0 0 0 1
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 0 1 0 0 1
Neurooculocardiogenitourinary syndrome 0 0 1 0 0 1
Neuropathy, hereditary sensory, type 1F 0 0 1 0 0 1
Nizon-Isidor syndrome 0 0 1 0 0 1
Non-syndromic renal or urinary tract malformation 0 0 1 0 0 1
Noonan syndrome 0 0 1 0 0 1
Noonan syndrome 11 1 0 0 0 0 1
Noonan syndrome 12 1 0 0 0 0 1
Noonan syndrome 13 0 0 1 0 0 1
Noonan syndrome 3 1 0 0 0 0 1
Noonan syndrome 6 1 0 0 0 0 1
Noonan syndrome 7 0 0 1 0 0 1
Noonan syndrome with multiple lentigines 1 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 0 1
Normophosphatemic familial tumoral calcinosis 0 0 0 1 0 1
Nystagmus 1, congenital, X-linked 1 0 0 0 0 1
Obesity due to SIM1 deficiency 1 0 0 0 0 1
Ocular albinism, type I 1 0 0 0 0 1
Oculocutaneous albinism 1 0 0 0 0 1
Oculofaciocardiodental syndrome 1 0 0 0 0 1
Oguchi disease-1 1 0 0 0 0 1
Ornithine aminotransferase deficiency 0 0 1 0 0 1
Orofacial cleft 11 0 0 1 0 0 1
Orofaciodigital syndrome I 1 0 0 0 0 1
Osteodysplastic primordial dwarfism, type 1 1 0 0 0 0 1
Osteogenesis imperfecta type 11 0 0 1 0 0 1
Osteogenesis imperfecta type 5 1 0 0 0 0 1
Osteogenesis imperfecta type III 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 1 0 0 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 0 1 0 0 0 1
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 0 0 1 0 0 1
PHGDH deficiency 0 0 1 0 0 1
PIGG-related neurodevelopmental disorder 0 0 1 0 0 1
PIK3CA related overgrowth syndrome 1 0 0 0 0 1
PLA2G6-associated neurodegeneration 0 0 1 0 0 1
PTPN23-related neurodevelopmental disorder 0 0 1 0 0 1
Pachyonychia congenita 3 0 0 1 0 0 1
Paget disease of bone 6 1 0 0 0 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1 0 0 0 0 1
Parenti-mignot neurodevelopmental syndrome 0 0 1 0 0 1
Parkinsonism-dystonia, infantile, 2 0 0 1 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 1 0 0 0 0 1
Partial androgen insensitivity syndrome 0 1 0 0 0 1
Pelger-Huët anomaly 0 1 0 0 0 1
Pelizaeus-Merzbacher disease 0 1 0 0 0 1
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 1 0 0 1
Peroxisome biogenesis disorder 14B 0 1 0 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 0 0 0 1
Peroxisome biogenesis disorder 2B 1 0 0 0 0 1
Peroxisome biogenesis disorder 6B 1 0 0 0 0 1
Peroxisome biogenesis disorder due to PEX16 defect 0 0 1 0 0 1
Perrault syndrome 2 0 0 1 0 0 1
Perrault syndrome 4 1 0 0 0 0 1
Persistent Mullerian duct syndrome 1 0 0 0 0 1
Phelan-McDermid syndrome 0 0 1 0 0 1
Pierson syndrome 1 0 0 0 0 1
Pigmentary retinal dystrophy 0 0 1 0 0 1
Pitt-Hopkins-like syndrome 1 0 0 0 0 1
Platelet-type bleeding disorder 15 0 0 1 0 0 1
Poikiloderma with neutropenia 0 1 0 0 0 1
Polycystic kidney disease 6 with or without polycystic liver disease 1 0 0 0 0 1
Polycystic liver disease 1 1 0 0 0 0 1
Polydactyly, postaxial, type A1 1 0 0 0 0 1
Polyendocrine-polyneuropathy syndrome 0 0 1 0 0 1
Polysyndactyly 4 1 0 0 0 0 1
Pontocerebellar hypoplasia type 2A 0 0 0 0 1 1
Pontocerebellar hypoplasia type 3 0 0 1 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 1 0 0 1
Predisposition to invasive fungal disease due to CARD9 deficiency 0 0 1 0 0 1
Premature ovarian failure 14 0 0 1 0 0 1
Primary ciliary dyskinesia 11 1 0 0 0 0 1
Primary ciliary dyskinesia 22 0 0 1 0 0 1
Primary ciliary dyskinesia 25 1 0 0 0 0 1
Primary ciliary dyskinesia 27 0 0 1 0 0 1
Primary ciliary dyskinesia 34 1 0 0 0 0 1
Primary hyperoxaluria type 3 1 0 0 0 0 1
Primary hypomagnesemia 1 0 0 0 0 1
Progressive familial heart block type IB 0 0 1 0 0 1
Progressive familial intrahepatic cholestasis type 2 1 0 0 0 0 1
Psoriasis 2 1 0 0 0 0 1
Purine-nucleoside phosphorylase deficiency 0 1 0 0 0 1
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 1 0 0 0 0 1
Pyruvate dehydrogenase E3 deficiency 1 0 0 0 0 1
Qualitative or quantitative defects of perlecan 0 0 1 0 0 1
RFT1-congenital disorder of glycosylation 0 0 1 0 0 1
RYR1-related myopathy 1 0 0 0 0 1
Rauch-Steindl syndrome 1 0 0 0 0 1
Renal carnitine transport defect 1 0 0 0 0 1
Renal hypomagnesemia 5 with ocular involvement 0 1 0 0 0 1
Renpenning syndrome 1 0 0 0 0 1
Reticular dysgenesis 1 0 0 0 0 1
Retinal dystrophy with or without macular staphyloma 0 0 1 0 0 1
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 1 0 0 0 0 1
Retinitis pigmentosa 10 0 0 1 0 0 1
Retinitis pigmentosa 13 0 1 0 0 0 1
Retinitis pigmentosa 2 0 0 1 0 0 1
Retinitis pigmentosa 30 0 0 1 0 0 1
Retinitis pigmentosa 31 0 0 1 0 0 1
Retinitis pigmentosa 71 0 0 1 0 0 1
Retinitis pigmentosa 78 0 0 1 0 0 1
Retinoblastoma 1 0 0 0 0 1
Rhizomelic chondrodysplasia punctata type 1 1 0 0 0 0 1
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 0 0 1 0 0 1
SLC35A2-congenital disorder of glycosylation 0 0 0 1 0 1
SLC39A8-CDG 0 0 1 0 0 1
SNAP25-related disorder 0 1 0 0 0 1
SRD5A3-congenital disorder of glycosylation 0 0 1 0 0 1
Saethre-Chotzen syndrome 0 0 0 1 0 1
Schwartz-Jampel syndrome type 1 0 0 1 0 0 1
Seckel syndrome 2 0 1 0 0 0 1
Seizures, early-onset, with neurodegeneration and brain calcifications 0 1 0 0 0 1
Self-limited familial infantile epilepsy 1 0 0 0 0 1
Septo-optic dysplasia sequence 0 1 0 0 0 1
Severe combined immunodeficiency due to DNA-PKcs deficiency 0 0 1 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 1 0 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 0 0 1 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 0 0 1
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 0 1 0 0 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 1 0 0 0 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 0 1 0 0 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 0 1 0 0 1
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 0 0 1 0 0 1
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0 0 1 0 0 1
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 1 0 0 0 0 1
Shwachman-Diamond syndrome 2 0 0 1 0 0 1
Sick sinus syndrome 2, autosomal dominant 0 0 1 0 0 1
Simpson-Golabi-Behmel syndrome type 1 0 0 1 0 0 1
Sitosterolemia 1 1 0 0 0 0 1
Sitosterolemia 2 0 0 1 0 0 1
Skeletal dysplasia, mild, with joint laxity and advanced bone age 0 0 1 0 0 1
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 1 0 0 0 0 1
Skraban-Deardorff syndrome 0 1 0 0 0 1
Southeast Asian ovalocytosis 1 0 0 0 0 1
Spastic ataxia 2 0 0 0 1 0 1
Spastic ataxia 3 0 0 1 0 0 1
Spastic paraplegia 52, autosomal recessive 0 0 1 0 0 1
Spasticity-ataxia-gait anomalies syndrome 0 0 1 0 0 1
Spinal muscular atrophy with congenital bone fractures 2 1 0 0 0 0 1
Spinocerebellar ataxia type 13 1 0 0 0 0 1
Spinocerebellar ataxia type 14 0 0 1 0 0 1
Spinocerebellar ataxia type 21 1 0 0 0 0 1
Spinocerebellar ataxia type 23 0 0 1 0 0 1
Spinocerebellar ataxia type 38 0 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, Bieganski type 0 0 1 0 0 1
Spondyloepiphyseal dysplasia congenita 1 0 0 0 0 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 0 0 0 1
Spondylometaphyseal dysplasia - Sutcliffe type 0 0 1 0 0 1
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 0 1 0 0 0 1
Spongy degeneration of central nervous system 1 0 0 0 0 1
Squalene synthase deficiency 0 0 1 0 0 1
Steatocystoma multiplex 1 0 0 0 0 1
Steel syndrome 0 1 0 0 0 1
Striatonigral degeneration, childhood-onset 0 1 0 0 0 1
Structural heart defects and renal anomalies syndrome 1 0 0 0 0 1
Subcortical band heterotopia 1 0 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 0 0 1
Supravalvar aortic stenosis 0 1 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 2 1 0 0 0 0 1
Sweeney-Cox syndrome 1 0 0 0 0 1
Syndromic X-linked intellectual disability 34 1 0 0 0 0 1
Syndromic X-linked intellectual disability 94 0 1 0 0 0 1
Syndromic X-linked intellectual disability Najm type 0 0 1 0 0 1
Syndromic X-linked intellectual disability Nascimento type 0 0 1 0 0 1
Syndromic X-linked intellectual disability Snyder type 0 1 0 0 0 1
Syndromic intellectual disability 0 0 1 0 0 1
Syndromic microphthalmia type 5 1 0 0 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 1 0 0 0 0 1
TNNT2 -related cardiomyopathies 1 0 0 0 0 1
Tay-Sachs disease, variant AB 1 0 0 0 0 1
Temple-Baraitser syndrome 0 0 1 0 0 1
Tenorio syndrome 0 0 0 1 0 1
Testosterone 17-beta-dehydrogenase deficiency 1 0 0 0 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 1 0 0 0 0 1
Thrombophilia due to thrombin defect 1 0 0 0 0 1
Thyroglobulin synthesis defect 1 0 0 0 0 1
Timothy syndrome type 1 0 0 1 0 0 1
Tooth agenesis, selective, 7 1 0 0 0 0 1
Treacher Collins syndrome 4 0 0 1 0 0 1
Trichohepatoenteric syndrome 1 0 0 1 0 0 1
Trichohepatoenteric syndrome 2 1 0 0 0 0 1
Trimethylaminuria 1 0 0 0 0 1
Ullrich congenital muscular dystrophy 2 0 0 1 0 0 1
Usmani-Riazuddin syndrome, autosomal dominant 0 0 1 0 0 1
VEXAS syndrome 1 0 0 0 0 1
Vertebral, cardiac, renal, and limb defects syndrome 3 0 1 0 0 0 1
Waardenburg syndrome type 2A 1 0 0 0 0 1
Wagner syndrome 0 0 1 0 0 1
Weill-Marchesani syndrome 1 0 0 0 1 0 1
X-linked Emery-Dreifuss muscular dystrophy 1 0 0 0 0 1
X-linked Opitz G/BBB syndrome 0 0 1 0 0 1
X-linked complicated corpus callosum dysgenesis 1 0 0 0 0 1
X-linked distal spinal muscular atrophy type 3 0 0 0 1 0 1
X-linked intellectual disability 0 0 1 0 0 1
X-linked intellectual disability with marfanoid habitus 0 0 0 1 0 1
X-linked intellectual disability, Stocco dos Santos type 0 0 1 0 0 1
X-linked intellectual disability, van Esch type 0 0 1 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 0 0 0 0 1
X-linked lymphoproliferative disease due to SH2D1A deficiency 1 0 0 0 0 1
X-linked myopathy with postural muscle atrophy 1 0 0 0 0 1
X-linked recessive nephrolithiasis with renal failure 0 0 1 0 0 1
X-linked severe combined immunodeficiency 1 0 0 0 0 1
X-linked syndromic intellectual disability 1 0 0 0 0 1
Zinc deficiency, transient neonatal 0 1 0 0 0 1
alpha Thalassemia 1 0 0 0 0 1
beta Thalassemia 1 0 0 0 0 1
von Willebrand disease type 2 1 0 0 0 0 1

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